Homozygosity for the R1268Q Mutation in MRP6, the Pseudoxanthoma Elasticum Gene, Is Not Disease-Causing

This publication has 15 references indexed in Scilit:

• Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum
  British Journal of Dermatology, 2006
• History
  Published by Elsevier ,2004
• Pseudoxanthoma elasticum: Mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter
  Proceedings of the National Academy of Sciences, 2000
• A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure
  Journal of Molecular Medicine, 2000
• Pseudoxanthoma Elasticum Maps to an 820-kb Region of the p13.1 Region of Chromosome 16
  Genomics, 1999
• MRP3, an organic anion transporter able to transport anti-cancer drugs
  Proceedings of the National Academy of Sciences, 1999
• Mapping of Both Autosomal Recessive and Dominant Variants of Pseudoxanthoma Elasticum to Chromosome 16p13.1
  Human Molecular Genetics, 1997
• Analysis of the Intron–Exon Organization of the Human Multidrug-Resistance Protein Gene (MRP) and Alternative Splicing of Its mRNA
  Genomics, 1997
• A Locus for Autosomal Recessive Pseudoxanthoma Elasticum, with Penetrance of Vascular Symptoms in Carriers, Maps to Chromosome 16p13.1
  Genome Research, 1997
• Structural model of ATP-binding proteing associated with cystic fibrosis, multidrug resistance and bacterial transport
  Nature, 1990