| 1 |
Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.
54
61
6
|
Wang T...Woo SL
|
1349576 |
1992 |
| 2 |
Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.
6
61
54
|
Dworniczak B...Horst J
|
1769645 |
1991 |
| 3 |
Mutation detection in phenylketonuria by using chemical cleavage of mismatch: importance of using probes from both normal and patient samples.
61
6
54
|
Forrest SM...Cotton RG
|
2063869 |
1991 |
| 4 |
Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.
61
54
6
|
Wang T...Woo SL
|
1998345 |
1991 |
| 5 |
Two distinct mutations at a single BamHI site in phenylketonuria.
6
54
61
|
Melle D...Lyonnet S
|
1671881 |
1991 |
| 6 |
Time and space clusters of the French-Canadian M1V phenylketonuria mutation in France.
61
6
|
Lyonnet S...Le Marec B
|
1609797 |
1992 |
| 7 |
In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
61
6
|
John SW...Rozen R
|
1301201 |
1992 |
| 8 |
Founder effect of a prevalent phenylketonuria mutation in the Oriental population.
61
6
|
Wang T...Oura T
|
2006152 |
1991 |
| 9 |
Two mutations within the coding sequence of the phenylalanine hydroxylase gene.
6
61
|
Svensson E...Hagenfeldt L
|
1975559 |
1990 |
| 10 |
GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.
6
61
|
Marvit J...Woo SL
|
3615198 |
1987 |
| 11 |
A comprehensive study of phenylalanine hydroxylase gene mutations in the Iranian phenylketonuria patients.
6
|
Esfahani MS...Vallian S
|
30389586 |
2019 |
| 12 |
[Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].
6
|
Zhang JJ...Xu ZF
|
24078561 |
2013 |
| 13 |
Loss of function in phenylketonuria is caused by impaired molecular motions and conformational instability.
6
|
Gersting SW...Muntau AC
|
18538294 |
2008 |
| 14 |
Phenylalanine hydroxylase deficiency exhibits mutation heterogeneity in two large old order Amish settlements.
6
|
Wang H...Morton H
|
17630668 |
2007 |
| 15 |
Molecular and phenotypic characteristics of patients with phenylketonuria in Serbia and Montenegro.
6
|
Stojiljkovic M...Pavlovic S
|
16879198 |
2006 |
| 16 |
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe.
6
|
Tighe O...Croke DT
|
12655548 |
2003 |
| 17 |
A silent mutation induces exon skipping in the phenylalanine hydroxylase gene in phenylketonuria.
6
|
Chao HK...Su TS
|
11214902 |
2001 |
| 18 |
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis.
6
|
Zschocke J...Hoffmann GF
|
10472529 |
1999 |
| 19 |
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L)
6
|
Corsello G...Romano V
|
9950317 |
1999 |
| 20 |
A molecular survey of phenylketonuria in Iceland: identification of a founding mutation and evidence of predominant Norse settlement.
6
|
Guldberg P...Guttler F
|
9450182 |
1997 |
| 21 |
Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
6
|
Byck S...Scriver CR
|
9101291 |
1997 |
| 22 |
Phenylketonuria in Spanish Gypsies: prevalence of the IVS10nt546 mutation on haplotype 34.
6
|
Desviat LR...Ugarte M
|
8990013 |
1997 |
| 23 |
PKU mutation G46S is associated with increased aggregation and degradation of the phenylalanine hydroxylase enzyme.
6
|
Eiken HG...Flatmark T
|
8829656 |
1996 |
| 24 |
Evidence in Latin America of recurrence of V388M, a phenylketonuria mutation with high in vitro residual activity.
6
|
Desviat LR...Ugarte M
|
7668259 |
1995 |
| 25 |
The PKU mutation S349P causes complete loss of catalytic activity in the recombinant phenylalanine hydroxylase enzyme.
6
|
Knappskog PM...Apold J
|
7860062 |
1995 |
| 26 |
Mutation analysis of phenylketonuria in south and central Portugal: prevalence of V388M mutation.
6
|
Leandro P...Lechner MC
|
7581408 |
1995 |
| 27 |
Gypsy phenylketonuria: a point mutation of the phenylalanine hydroxylase gene in Gypsy families from Slovakia.
6
|
Kalanin J...Matsuoka A
|
8116675 |
1994 |
| 28 |
Geographical distribution of the P281L mutation at the phenylalanine hydroxylase locus: possible origin in southeastern Europe.
6
|
Baric I...Trefz FK
|
7807961 |
1994 |
| 29 |
The phenylketonuria G272X haplotype 7 mutation in European populations.
6
|
Apold J...Melle D
|
8370573 |
1993 |
| 30 |
Presence of the Mediterranean PKU mutation IVS10 in Latin America.
6
|
Perez B...Ugarte M
|
8401510 |
1993 |
| 31 |
Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.
6
|
Kleiman S...Shiloh Y
|
8487271 |
1993 |
| 32 |
Molecular analysis of contiguous exons of the phenylalanine hydroxylase gene: identification of a new PKU mutation.
6
|
Dianzani I...Cotton RG
|
8097261 |
1993 |
| 33 |
Rapid and efficient PCR/StyI test for identification of common mutation R408W in phenylketonuria patients.
6
|
Ivaschenko T...Baranov VS
|
8445621 |
1993 |
| 34 |
A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.
6
|
Weinstein M...Shiloh Y
|
8095248 |
1993 |
| 35 |
Illegitimate transcription of the phenylalanine hydroxylase gene in lymphocytes for identification of mutations in phenylketonuria.
6
|
Abadie V...Rey J
|
8098245 |
1993 |
| 36 |
Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast.
6
|
Takahashi K...Narisawa K
|
1360590 |
1992 |
| 37 |
A new 15 bp deletion in exon 11 of the phenylalanine hydroxylase gene in phenylketonuria.
6
|
Jaruzelska J...Munnich A
|
1363837 |
1992 |
| 38 |
A new PKU mutation associated with haplotype 12.
6
|
Desviat LR...Ugarte M
|
1363838 |
1992 |
| 39 |
Identification of a missense phenylketonuria mutation at codon 408 in Chinese.
6
|
Lin CH...Su TS
|
1355066 |
1992 |
| 40 |
Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.
6
|
Perez B...Ugarte M
|
1601425 |
1992 |
| 41 |
PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.
6
|
Eiken HG...Apold J
|
1312992 |
1992 |
| 42 |
Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.
6
|
John SW...Scriver CR
|
1301193 |
1992 |
| 43 |
A de novo phenylketonuria mutation: ATG (Met) to ATA (Ile) in the start codon of the phenylalanine hydroxylase gene.
6
|
Eiken HG...Boman H
|
1301947 |
1992 |
| 44 |
Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria.
6
|
Ramus SJ...Cotton RG
|
1301202 |
1992 |
| 45 |
Silent mutations in the phenylalanine hydroxylase gene as an aid to the diagnosis of phenylketonuria.
6
|
Kalaydjieva L...Horst J
|
1682495 |
1991 |
| 46 |
A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.
6
|
Eigel A...Horst J
|
1682235 |
1991 |
| 47 |
The identification of two mis-sense mutations at the PAH gene locus in a Turkish patient with phenylketonuria.
6
|
Konecki DS...Lichter-Konecki U
|
1679030 |
1991 |
| 48 |
Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.
6
|
Labrune P...Lyonnet S
|
2035532 |
1991 |
| 49 |
Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.
6
|
Wang T...Woo SL
|
2071149 |
1991 |
| 50 |
A 3-base pair in-frame deletion of the phenylalanine hydroxylase gene results in a kinetic variant of phenylketonuria.
6
|
Caillaud C...Munnich A
|
1709636 |
1991 |
Rare neurological diseases 
