PMID 16086317 2005 Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
PMID 15459974 2004 ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
PMID 11880368 2002 Loss of ATP-dependent transport activity in pseudoxanthoma elasticum-associated mutants of human ABCC6 (MRP6).
PMID 10835642 2000 Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.
PMID 10954200 2000 Mutations of the gene encoding the transmembrane transporter protein ABC-C6 cause pseudoxanthoma elasticum.
PMID 15086542 2004 Novel ABCC6 mutations in pseudoxanthoma elasticum.
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 10811882 2000 Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter.
PMID 15098239 2004 Does autosomal dominant pseudoxanthoma elasticum exist?
PMID 19339160 2009 Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
PMID 17617515 2007 Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
PMID 11536079 2001 A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum.
PMID 25615550 2015 Genetic heterogeneity of pseudoxanthoma elasticum: the Chinese signature profile of ABCC6 and ENPP1 mutations.