Novel ABCC6 Mutations in Pseudoxanthoma Elasticum

This publication has 23 references indexed in Scilit:

• Historical evidence for the genetic heterogeneity of pseudoxanthoma elasticum
  British Journal of Dermatology, 2006
• ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum
  European Journal of Human Genetics, 2003
• Splice mutation 1811+1.6kbA>G causes severe cystic fibrosis with pancreatic insufficiency: report of 11 compound heterozygous and two homozygous patients
  Journal of Medical Genetics, 2002
• Loss of ATP-dependent Transport Activity in Pseudoxanthoma Elasticum-associated Mutants of Human ABCC6 (MRP6)
  Journal of Biological Chemistry, 2002
• Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum
  Human Genetics, 2001
• Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
  Human Mutation, 2001
• Pseudoxanthoma elasticum: Significance of limited phenotypic expression in parents of affected offspring
  Journal of the American Academy of Dermatology, 2001
• Compound Heterozygosity for a Recurrent 16.5-kb Alu-Mediated Deletion Mutation and Single-Base-Pair Substitutions in the ABCC6 Gene Results in Pseudoxanthoma Elasticum
  American Journal of Human Genetics, 2001
• ABC drug transporters: hereditary polymorphisms and pharmacological impact in MDR1, MRP1 and MRP2
  Pharmacogenomics, 2001
• Abnormalities of connective tissue components in lesional and non-lesional tissue of patients with pseudoxanthoma elasticum
  Archives of Dermatological Research, 1993