Variant: rs28939701 

    present in Gene: ABCC6
    present in Chromosome: 16
    Position on Chromosome: 16163087
    Alleles of this Variant: G/A

rs28939701 in ABCC6 gene and Pseudoxanthoma Elasticum PMID 16086317 2005 Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.

PMID 11880368 2002 Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).

PMID 15459974 2004 ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).

PMID 15098239 2004 Does autosomal dominant pseudoxanthoma elasticum exist?

PMID 17617515 2007 Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.

PMID 20034067 2010 An unusual severe vascular case of pseudoxanthoma elasticum presenting as generalized arterial calcification of infancy.

PMID 10954200 2000 Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.

PMID 19339160 2009 Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.

PMID 25615550 2015 Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.

PMID 15086542 2004 Novel ABCC6 mutations in pseudoxanthoma elasticum.

PMID 10811882 2000 Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.

PMID 11702217 2001 Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum.

PMID 11427982 2001 Molecular genetics of pseudoxanthoma elasticum: a metabolic disorder at the environment-genome interface?

PMID 10835642 2000 Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.

PMID 11536079 2001 A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.