FH
MCID: HYP607
MIFTS: 76

Hypercholesterolemia, Familial (FH) malady

Categories: Genetic diseases, Rare diseases, Metabolic diseases

Aliases & Classifications for Hypercholesterolemia, Familial

Aliases & Descriptions for Hypercholesterolemia, Familial:

Name: Hypercholesterolemia, Familial 54 13 38 69
Familial Hypercholesterolemia 38 12 23 50 24 66 14
Hypercholesterolemia 54 25 52 69
Hypercholesterolemia, Autosomal Dominant 23 50 52
Hyperbetalipoproteinemia 12 50 29
Hyperlipoproteinemia Type Iia 23 69
Familial Hypercholesterolæmia 23 29
Hyperlipoproteinemia Type Ii 50 42
Fh 50 66
Coronary Artery Disease in Familial Hypercholesterolemia, Protection Against 54
Hypercholesterolemia, Familial, Due to Ldlr Defect, Modifier of 54
Hypercholesterolemia, Familial, Modifier of 54
Fredrickson Type Iia Hyperlipoproteinemia 12
Familial Hyperbetalipoproteinaemia 12
High Serum Cholesterol, Familial 50
Fredrickson Type Iia Lipidaemia 12
Hyperlipoproteinemia, Type 2 a 50
Hypercholesterolemia Familial 52
Hyperlipoproteinemia Type Iib 69
Familial Hypercholesteremia 12
Hyperlipoproteinemia Type 2 50
Ldl Cholesterol Level Qtl2 54
Hyper-Beta-Lipoproteinemia 50
Hyperlipidema, Familial 50
Type Ii Hyperlipidemia 12
Ldl Receptor Disorder 50
Elevated Cholesterol 25
Fhc 50

Characteristics:

GeneReviews:

23
hypercholesterolemia, familial:
Inheritance autosomal dominant inheritance


GeneReviews:

23
Penetrance Apob. penetrance for fh can be incomplete in persons with a heterozygous apob pathogenic variant [fahed & nemer 2011]...

Classifications:



External Ids:

OMIM 54 143890
Disease Ontology 12 DOID:13810
ICD10 33 E78.0
MeSH 42 D006938
NCIt 47 C34704
UMLS 69 C0020445

Summaries for Hypercholesterolemia, Familial

NIH Rare Diseases : 50 familial hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood due to mutations in the ldlr gene. people with hypercholesterolemia have a high risk of developing a form of heart disease called coronary artery disease, as well as health problems related to the buildup of excess cholesterol in other tissues (e.g., in the tendons and skin). familial hypercholesterolemia tends to be passed through families in an autosomal dominant fashion. there are other hereditary forms of hypercholesterolemia caused by mutations in the apob, ldlrap1, or pcsk9 gene. however, most cases of high cholesterol are not caused by a single inherited condition, but result from a combination of lifestyle choices and the effects of variations in many genes. last updated: 6/18/2015

MalaCards based summary : Hypercholesterolemia, Familial, also known as familial hypercholesterolemia, is related to hypercholesterolemia, familial, autosomal recessive and homozygous familial hypercholesterolemia, and has symptoms including hypertriglyceridemia, hypercholesterolemia and abnormality of the skin. An important gene associated with Hypercholesterolemia, Familial is LDLR (Low Density Lipoprotein Receptor), and among its related pathways/superpathways are Metabolism and Regulation of lipid metabolism by Peroxisome proliferator-activated receptor alpha (PPARalpha). The drugs Cilostazol and Probucol have been mentioned in the context of this disorder. Affiliated tissues include Liver, skin and heart, and related phenotypes are Decreased free cholesterol and Increased LDL uptake

Disease Ontology : 12 A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease.

Genetics Home Reference : 25 Hypercholesterolemia is a condition characterized by very high levels of cholesterol in the blood. Cholesterol is a waxy, fat-like substance that is produced in the body and obtained from foods that come from animals (particularly egg yolks, meat, poultry, fish, and dairy products). The body needs this substance to build cell membranes, make certain hormones, and produce compounds that aid in fat digestion. Too much cholesterol, however, increases a person's risk of developing heart disease.

OMIM : 54 Familial hypercholesterolemia is an autosomal dominant disorder characterized by elevation of serum cholesterol bound... (143890) more...

UniProtKB/Swiss-Prot : 66 Familial hypercholesterolemia: Common autosomal semi-dominant disease that affects about 1 in 500 individuals. The receptor defect impairs the catabolism of LDL, and the resultant elevation in plasma LDL-cholesterol promotes deposition of cholesterol in the skin (xanthelasma), tendons (xanthomas), and coronary arteries (atherosclerosis).

Wikipedia : 71 Familial hypercholesterolemia (abbreviated FH, also spelled familial hypercholesterolaemia) is a genetic... more...

GeneReviews: NBK174884

Related Diseases for Hypercholesterolemia, Familial

Diseases in the Hypercholesterolemia, Familial family:

Hypercholesterolemia, Familial, Autosomal Recessive Hypercholesterolemia, Familial, 3
Hypercholesterolemia, Due to Ligand-Defective Apo B Ldlrap1-Related Familial Hypercholesterolemia, Autosomal Recessive
Apob-Related Familial Hypercholesterolemia, Autosomal Dominant Ldlr-Related Familial Hypercholesterolemia, Autosomal Dominant
Pcsk9-Related Familial Hypercholesterolemia, Autosomal Dominant

Diseases related to Hypercholesterolemia, Familial via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 126)
id Related Disease Score Top Affiliating Genes
1 hypercholesterolemia, familial, autosomal recessive 33.4 LDLR LDLRAP1 PCSK9
2 homozygous familial hypercholesterolemia 12.0
3 pcsk9-related familial hypercholesterolemia, autosomal dominant 11.9
4 hypercholesterolemia, familial, 3 11.9
5 apob-related familial hypercholesterolemia, autosomal dominant 11.8
6 ldlr-related familial hypercholesterolemia, autosomal dominant 11.8
7 ldlrap1-related familial hypercholesterolemia, autosomal recessive 11.8
8 leiomyomatosis and renal cell cancer 11.8
9 fumarase deficiency 11.8
10 hyperaldosteronism, familial, type iii 11.7
11 floating-harbor syndrome 11.6
12 leiomyomatosis 11.3
13 renal cell carcinoma 11.3
14 leiomyoma 11.3
15 paraganglioma 11.3
16 leiomyosarcoma 11.3
17 pheochromocytoma 11.2
18 fumarate hydratase deficiency 11.2
19 histiocytosis-lymphadenopathy plus syndrome 11.2
20 uterine fibroid 11.2
21 cerebrotendinous xanthomatosis 11.1
22 hyperlipidemia, familial combined 11.1
23 fitz-hugh-curtis syndrome 11.1
24 aldosteronism, glucocorticoid-remediable 11.0
25 kidney cancer 11.0
26 encephalopathy 10.9
27 hyperaldosteronism, familial, type iv 10.9
28 cutaneous leiomyosarcoma 10.9
29 oxyphilic adenoma 10.9
30 multiple cutaneous and uterine leiomyomas 10.9
31 asperger syndrome 10.9
32 acute contagious conjunctivitis 10.8
33 dartoic leiomyoma 10.8
34 familial renal papillary carcinoma 10.8
35 birt-hogg-dube syndrome 10.8
36 familial renal oncocytoma 10.8
37 polyhydramnios 10.8
38 renal cell carcinoma, papillary 10.8
39 carrion's disease 10.8
40 skin sarcoma 10.8
41 reproductive organ benign neoplasm 10.8
42 hereditary paraganglioma-pheochromocytoma syndromes 10.8
43 mucinous ovarian cystadenoma 10.8
44 cell type benign neoplasm 10.8
45 ovarian cystadenoma 10.8
46 uterine benign neoplasm 10.8
47 ovarian benign neoplasm 10.8
48 hereditary renal cell carcinoma 10.8
49 leiomyoma cutis 10.8
50 gastric leiomyoma 10.8

Graphical network of the top 20 diseases related to Hypercholesterolemia, Familial:



Diseases related to Hypercholesterolemia, Familial

Symptoms & Phenotypes for Hypercholesterolemia, Familial

Symptoms by clinical synopsis from OMIM:

143890

Clinical features from OMIM:

143890

Human phenotypes related to Hypercholesterolemia, Familial:

32 (show all 7)
id Description HPO Frequency HPO Source Accession
1 hypertriglyceridemia 32 HP:0002155
2 hypercholesterolemia 32 HP:0003124
3 abnormality of the skin 32 HP:0000951
4 xanthelasma 32 HP:0001114
5 corneal arcus 32 HP:0001084
6 atheromatosis 32 HP:0002635
7 hyperbetalipoproteinemia 32 HP:0003141

GenomeRNAi Phenotypes related to Hypercholesterolemia, Familial according to GeneCards Suite gene sharing:

26
id Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased free cholesterol GR00340-A-2 9.77 PCSK9 ABCA1 APOA1 APOA4 APOB APOE
2 Increased LDL uptake GR00340-A-1 8.92 APOA1 APOE LDLR LPL

MGI Mouse Phenotypes related to Hypercholesterolemia, Familial:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 9.86 GHR HMGCR LDLR LDLRAP1 LIPC LPL
2 cardiovascular system MP:0005385 9.81 ABCA1 APOA1 APOB APOE EPHX2 GHR
3 liver/biliary system MP:0005370 9.36 ABCA1 APOA1 APOB APOE GHR HMGCR

Drugs & Therapeutics for Hypercholesterolemia, Familial

Drugs for Hypercholesterolemia, Familial (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 485)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cilostazol Approved Phase 4 73963-72-1 2754
2
Probucol Approved Phase 4 23288-49-5 4912
3
Ezetimibe Approved Phase 4,Phase 3,Phase 2,Phase 1 163222-33-1 150311
4
Fluvastatin Approved Phase 4,Phase 3 93957-54-1 1548972
5
Simvastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 79902-63-9 54454
6
Aspirin Approved, Vet_approved Phase 4,Phase 1 50-78-2 2244
7
Pravastatin Approved Phase 4,Phase 3,Phase 2,Phase 1 81093-37-0 54687
8
Citalopram Approved Phase 4 59729-33-8 2771
9
Amlodipine Approved Phase 4,Phase 3 88150-42-9 2162
10
Atenolol Approved Phase 4 29122-68-7 2249
11
Clonidine Approved Phase 4 4205-90-7 2803
12
Doxazosin Approved Phase 4,Phase 3 74191-85-8 3157
13
Furosemide Approved, Vet_approved Phase 4,Phase 3 54-31-9 3440
14
Hydrochlorothiazide Approved, Vet_approved Phase 4,Phase 3 58-93-5 3639
15
Irbesartan Approved, Investigational Phase 4,Phase 3 138402-11-6 3749
16
Ramipril Approved Phase 4,Phase 3 87333-19-5 5362129
17
Pitavastatin Approved Phase 4,Phase 3,Phase 1 147511-69-1, 147526-32-7 6366718 5282452
18
Ritonavir Approved, Investigational Phase 4,Phase 3,Phase 1 155213-67-5 392622
19
Efavirenz Approved, Investigational Phase 4,Phase 3,Phase 2 154598-52-4 64139
20
Lopinavir Approved Phase 4,Phase 3,Phase 1 192725-17-0 92727
21
Loperamide Approved Phase 4 53179-11-6 3955
22
Spironolactone Approved Phase 4 1952-01-7, 52-01-7 5833
23
Fenofibrate Approved Phase 4,Phase 3,Phase 2,Phase 1 49562-28-9 3339
24
Heparin Approved, Investigational Phase 4 9005-49-6 772 46507594
25
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
26
Everolimus Approved Phase 4,Phase 3,Phase 1 159351-69-6 6442177
27
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 1 53123-88-9 5284616 6436030 46835353
28
Colestipol Approved Phase 4 26658-42-4, 50925-79-6 62816
29
Valsartan Approved, Investigational Phase 4,Phase 3 137862-53-4 60846
30
Nevirapine Approved Phase 4,Phase 3 129618-40-2 4463
31
Methyltestosterone Approved Phase 4 58-18-4 6010
32
Testosterone Approved, Investigational Phase 4 58-22-0 6013
33
Abacavir Approved, Investigational Phase 4,Phase 3 136470-78-5 65140 441300
34
Lamivudine Approved, Investigational Phase 4,Phase 3 134678-17-4 60825
35
Zidovudine Approved Phase 4,Phase 3 30516-87-1 35370
36
Lovastatin Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 75330-75-5 53232
37
Gemfibrozil Approved Phase 4,Phase 2,Phase 1 25812-30-0 3463
38
Adenosine Approved, Investigational Phase 4,Phase 2 58-61-7 60961
39
Febuxostat Approved Phase 4 144060-53-7 134018
40
Celecoxib Approved, Investigational Phase 4,Phase 3 169590-42-5 2662
41
Darunavir Approved Phase 4 635728-49-3, 206361-99-1 213039
42
Candesartan Approved Phase 4,Phase 3 139481-59-7 2541
43
Tenofovir Approved, Investigational Phase 4,Phase 2 147127-20-6 464205
44
Emtricitabine Approved, Investigational Phase 4,Phase 2 143491-57-0 60877
45
Estradiol Approved, Investigational, Vet_approved Phase 4 50-28-2 5757 53477783
46
Nitroglycerin Approved, Investigational Phase 4 55-63-0 4510
47
Bezafibrate Approved Phase 4,Phase 3 41859-67-0 39042
48
Ustekinumab Approved, Investigational Phase 4 815610-63-0
49
Ethinyl Estradiol Approved Phase 4 57-63-6 5991
50
Moxifloxacin Approved, Investigational Phase 4 354812-41-2, 151096-09-2 152946

Interventional clinical trials:

(show top 50) (show all 1173)
id Name Status NCT ID Phase
1 Trial to Assess the Effects of P-OM3 on LDL-C in Subjects With Primary Hypercholesterolemia Unknown status NCT00746811 Phase 4
2 Probiotic BIO-25 as a Supplement to Statins for the Treatment of Hypercholesterolemia Unknown status NCT01849185 Phase 4
3 To Compare the Effect of Concomitant Administration of Probucol and Cilostazol With Probucol Single Treatment on the Atherosclerosis Related Markers (Including the Thickness of the Achilles Tendon) and Evaluate Safety (Based on Atorvastatin Treatment) in Unknown status NCT02098460 Phase 4
4 Tolerability and Lipid Lowering Effect of Weekly/Biweekly Crestor in Statin Intolerant Patients Treated With Zetia Unknown status NCT00972829 Phase 4
5 Exercise And Rosuvastatin Treatment: Is There an Anti-Inflammatory Synergy? Unknown status NCT00295373 Phase 4
6 Efficacy and Safety Study of 5 mg and 10 mg Rosuvastatin Unknown status NCT01613729 Phase 4
7 Fluvastatin After Heart Transplantation Unknown status NCT00421005 Phase 4
8 Ezetimibe/Simvastatin Combination in Proteinuric Nephropathy Unknown status NCT00861731 Phase 4
9 Atorvastatin, Aspirin, Oxidative Stress, Coagulation and Platelet Activation Indexes Unknown status NCT01322711 Phase 4
10 Multifactorial Intervention on Cardiovascular Risk Factors in Subjects With Peripheral Arterial Disease Unknown status NCT00144937 Phase 4
11 The Effects of Pravastatin and Rosuvastatin on Coronary Plaques in Patients With Stable Angina Pectoris Unknown status NCT01325818 Phase 4
12 Korean AMADEUS Study Unknown status NCT01239849 Phase 4
13 The Effects of Omega-3 Fatty Acid (OMACOR) on the Low-density Lipoprotein (LDL) Sub-fraction in Type 2 Diabetic Patients Unknown status NCT00758927 Phase 4
14 Aspirin Resistance and Prognosis of Patients With Critical Limb Ischaemia Unknown status NCT01104441 Phase 4
15 A Study Evaluating the Effects of Lipid Lowering Treatment on Steroid Synthesis Unknown status NCT00433823 Phase 4
16 Cardiovascular Effects of Agomelatine and Escitalopram in Patients With Major Depressive Disorder (MDD) Unknown status NCT01483053 Phase 4
17 Efficacy and Adverse Effect of Simvastatin Compare to Rosuvastatin in Systemic Lupus Erythematosus (SLE) Patients With Corticosteroid Therapy and High Low-Density Lipoprotein (LDL) Cholesterol Level Unknown status NCT00866229 Phase 4
18 Major Depressive Disorder - Understanding The Link Between The Brain And The Heart Unknown status NCT01568307 Phase 4
19 Anti-inflammatory Effect of Atorvastatin in Atherosclerotic Plaques Assessed by FDG-PET Imaging Unknown status NCT00920101 Phase 4
20 Comparing a Nucleoside-Analogue-Sparing Regimen and a Protease-Inhibitor-Sparing Regimen in HIV Infected Patients Unknown status NCT00135460 Phase 4
21 Nephropathy In Type 2 Diabetes and Cardio-renal Events Unknown status NCT00535925 Phase 4
22 Evaluation of Ezetimibe and Atorvastatin Coadministration Versus Atorvastatin or Rosuvastatin Monotherapy in Japanese Patients With Hypercholesterolemia (Study P06027)(COMPLETED) Completed NCT00871351 Phase 4
23 To Evaluate the Lipid-Lowering Efficacy and Safety of Simvastatin 40 Mg Tablet In Patients With Hypercholesterolemia (0733-264) Completed NCT00398294 Phase 4
24 Efficacy And Safety Study Of Atorvastatin Versus Simvastatin In Type 2 Diabetic Subjects With Hypercholesterolemia Completed NCT00141141 Phase 4
25 Cholesterol Lowering Treatment With Psyllium Husks and Isolated Soy Protein in Hypercholesterolemia Completed NCT01251991 Phase 4
26 Efficacy and Safety Study of Pitavastatin Versus Atorvastatin to Treat Hypercholesterolemia Completed NCT01166633 Phase 4
27 A Study of the Effect of Ezetimibe on Glucose Metabolism in Type 2 Diabetics With Hypercholesterolemia (P06541) Completed NCT01611883 Phase 4
28 STITCH2 (Simplified Therapeutic Intervention to Control Hypertension and Hypercholesterolemia) Completed NCT00637078 Phase 4
29 A Study of the Safety and Efficacy of Patients With Familial Hypercholesterolaemia Taking Colesevelam as add-on Therapy to Their Existing Medication Completed NCT00655265 Phase 4
30 Efficacy and Safety Study of Pitavastatin Compared to atoRvastatin in Type 2 dIabeTes Mellitus With Hypercholesterolemia Completed NCT00889226 Phase 4
31 Ezetimibe Plus Simvastatin Versus Simvastatin Alone in African-American Subjects With Primary Hypercholesterolemia (P03377) Completed NCT00650663 Phase 4
32 The Efficacy and Tolerability of Two Formulations of Atorvastatin In Korean Adult With Hypercholesterolemia Completed NCT01285544 Phase 4
33 Efficacy and Safety of Colesevelam in Pediatric Patients With Genetic High Cholesterol Completed NCT00145574 Phase 4
34 Effect of Combination Therapy With Two Drugs (Colesevelam and Ezetimibe) in Patients With High Cholesterol Completed NCT00185107 Phase 4
35 Evaluation of the Effects of Simvastatin 40mg Completed NCT00397826 Phase 4
36 A Clinical Trial Study to Evaluate Efficacy and Safety of Atorvastatin in Korean Patients With Hypercholesterolemia Completed NCT01081548 Phase 4
37 Randomized Parallel Group Trial Of The Efficacy And Safety Of Ezetimibe With A Statin Versus Statin Dose Doubling In Patients With Persistent Primary Hypercholesterolemia (0653-152)(COMPLETED) Completed NCT00652847 Phase 4
38 Comparison of Ezetimibe Added to Ongoing Statin Therapy Versus Doubling the Dose of Statin in the Treatment of Hypercholesterolemia (P04355) Completed NCT00652327 Phase 4
39 Effectiveness and Safety of Ezetimibe Added to Atorvastatin in Patients With High Cholesterol and Coronary Heart Disease (Study P03740) Completed NCT00202904 Phase 4
40 Treatment With Rosuvastatin Versus Switching PI (Protease Inhibitor) in Patients HIV With High Cholesterol Levels Completed NCT01935674 Phase 4
41 The Effects of Ezetimibe/Simvastatin 10/20 mg Versus Simvastatin 40 mg in High Cholesterol and Coronary Heart Disease Study (P04039AM2)(COMPLETED) Completed NCT00423579 Phase 4
42 Adding Ezetimibe Tablet to Ongoing Treatment With Atorvastatin in Subjects With High Cholesterol and Multiple Coronary Heart Disease Risk Factors (Study P04060)(COMPLETED) Completed NCT00319449 Phase 4
43 Ezetimibe Plus (+) Simvastatin Versus Atorvastatin Comparative Study (0653A-092)(COMPLETED) Completed NCT00166504 Phase 4
44 Evaluation of the Efficacy and Safety of Rosuvastatin 5 mg Versus Pravastatin 40 mg and Atorvastatin 10 mg in Type IIa and IIb Hypercholesterolaemic Patients Completed NCT00631189 Phase 4
45 Effect On Serum Cholesterol Of Dairy Products With Addition Of Esterified Phytosterols Completed NCT02644109 Phase 4
46 The Efficacy and Safety of Atorva® 20mg Versus Lipitor® 20mg Completed NCT01624207 Phase 4
47 Effects of Ezetimibe on the Absorption of Oxidized Cholesterol Completed NCT00794677 Phase 4
48 Ezetimibe Plus Atorvastatin Versus Atorvastatin in Untreated Subjects With High Cholesterol (P03434) Completed NCT00653796 Phase 4
49 Ezetimibe Plus Simvastatin Versus Simvastatin in Untreated Subjects With High Cholesterol (P03435) Completed NCT00653835 Phase 4
50 Efficacy and Safety of Fluvastatin Sodium Extended Release Tablets 80 mg Once Daily in Chinese Patients With Primary Hypercholesterolemia or Mixed Dyslipidemia Completed NCT01551173 Phase 4

Search NIH Clinical Center for Hypercholesterolemia, Familial

Inferred drug relations via UMLS 69 / NDF-RT 48 :


Cell-based therapeutics:


LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database
Read about Hypercholesterolemia, Familial cell therapies at LifeMap Discovery.
Stem-cell-based therapeutic approaches for Hypercholesterolemia, Familial:
Hepatocyte transplantation for treatment of liver disorders
Hepatocyte transplantation for treatment of liver failure and inherited metabolic diseases
Embryonic/Adult Cultured Cells Related to Hypercholesterolemia, Familial:
Hepatocytes PMIDs: 15239608 12777539 9580649 22789058 22167636

Cochrane evidence based reviews: hyperlipoproteinemia type ii

Genetic Tests for Hypercholesterolemia, Familial

Genetic tests related to Hypercholesterolemia, Familial:

id Genetic test Affiliating Genes
1 Familial Hypercholesterolemia 29 24
2 Familial Hypercholesterolemias 29
3 Hyperbetalipoproteinemia 29

Anatomical Context for Hypercholesterolemia, Familial

MalaCards organs/tissues related to Hypercholesterolemia, Familial:

39
Skin, Heart, Liver
LifeMap Discovery
Data from LifeMap, the Embryonic Development and Stem Cells Database

Cells/anatomical compartments in embryo or adult related to Hypercholesterolemia, Familial:
id Tissue Anatomical CompartmentCell Relevance
1 Liver Liver Lobule Hepatocytes Potential therapeutic candidate, affected by disease

Publications for Hypercholesterolemia, Familial

Articles related to Hypercholesterolemia, Familial:

id Title Authors Year
1
Changes in ultracentrifugally separated plasma lipoprotein subfractions in patients with polygenic hypercholesterolemia, familial combined hyperlipoproteinemia, and familial hypercholesterolemia after treatment with atorvastatin. ( 25911077 )
2015
2
[Mutation screening and functional analysis of low density lipoprotein receptor in a familial hypercholesterolemia family]. ( 18247305 )
2008
3
Characterization of a new form of inherited hypercholesterolemia: familial recessive hypercholesterolemia. ( 10073989 )
1999
4
Screening for new mutations in the LDL receptor gene in seven French familial hypercholesterolemia families by the single strand conformation polymorphism method. ( 1301940 )
1992