rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
|
19339160 |
2009 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
|
17617515 |
2007 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Does autosomal dominant pseudoxanthoma elasticum exist?
|
15098239 |
2004 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Novel ABCC6 mutations in pseudoxanthoma elasticum.
|
15086542 |
2004 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
|
10835642 |
2000 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.
|
11702217 |
2001 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.
|
20034067 |
2010 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
|
11880368 |
2002 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.
|
10954200 |
2000 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
|
16086317 |
2005 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
|
15459974 |
2004 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
|
10811882 |
2000 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.
|
25615550 |
2015 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
|
11536079 |
2001 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
|
0.800 |
GeneticVariation |
UNIPROT |
Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?
|
11427982 |
2001 |
rs63750428
|
Entrez Id: |
368 |
Gene Symbol: |
ABCC6 |
ABCC6
|
Pseudoxanthoma Elasticum
|
A |
0.800 |
CausalMutation |
CLINVAR |
|
|
|