| 1 |
Mutations in the GGCX and ABCC6 genes in a family with pseudoxanthoma elasticum-like phenotypes.
56
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Li Q...Uitto J
|
18800149 |
2009 |
| 2 |
Pseudoxanthoma elasticum: the end of the autosomal dominant segregation myth.
56
|
Bergen AA
|
16541094 |
2006 |
| 3 |
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
56
|
Miksch S...Struk B
|
16086317 |
2005 |
| 4 |
Does autosomal dominant pseudoxanthoma elasticum exist?
56
|
Plomp AS...Bergen AA
|
15098239 |
2004 |
| 5 |
Pseudoxanthoma Elasticum
6
|
Terry SF...Uitto J
|
20301292 |
2001 |
| 6 |
Pseudoxanthoma elasticum: significance of limited phenotypic expression in parents of affected offspring.
56
|
Sherer DW...Lebwohl M
|
11209132 |
2001 |
| 7 |
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
56
|
Le Saux O...Boyd CD
|
10835642 |
2000 |
| 8 |
Mutations in ABCC6 cause pseudoxanthoma elasticum.
56
|
Bergen AA...de Jong PT
|
10835643 |
2000 |
| 9 |
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
56
|
Ringpfeil F...Uitto J
|
10811882 |
2000 |
| 10 |
Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE).
56
|
Bacchelli B...Ronchetti IP
|
10619263 |
1999 |
| 11 |
Mapping of both autosomal recessive and dominant variants of pseudoxanthoma elasticum to chromosome 16p13.1.
56
|
Struk B...Lindpaintner K
|
9302259 |
1997 |
| 12 |
A locus for autosomal recessive pseudoxanthoma elasticum, with penetrance of vascular symptoms in carriers, maps to chromosome 16p13.1.
56
|
van Soest S...Bergen AA
|
9267806 |
1997 |
| 13 |
Classification of pseudoxanthoma elasticum: report of a consensus conference.
56
|
Lebwohl M...McKusick VA
|
8277008 |
1994 |
| 14 |
Early preclinical diagnosis of dominant pseudoxanthoma elasticum by specific ultrastructural changes of dermal elastic and collagen tissue in a family at risk.
56
|
Hausser I...Anton-Lamprecht I
|
1937472 |
1991 |
