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Pseudoxanthoma Elasticum Is a Recessive Disease Characterized by Compound Heterozygosity

  • Published:2006-04 Issue:4 Volume:126 Page:782-786
  • ISSN:0022-202X
  • Container-title:Journal of Investigative Dermatology
  • language:en
  • Short-container-title:Journal of Investigative Dermatology

Author:

Ringpfeil Franziska,McGuigan Kelly,Fuchsel Lauren,Kozic Heidi,Larralde Margarita,Lebwohl Mark,Uitto Jouni

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference23 articles.

1. Identification of heterozygote carriers in families with a recessive form of pseudoxanthoma elasticum (PXE);Bacchelli;Mod Pathol,1999

2. Mutations in ABCC6 cause pseudoxanthoma elasticum;Bergen;Nat Genet,2000

3. Pseudoxanthoma elasticum: a clinical, pathophysiological and genetic update including 11 novel ABCC6 mutations;Chassaing;J Med Genet,2005

4. Novel ABCC6 mutations in pseudoxanthoma elasticum;Chassaing;J Invest Dermatol,2004

5. Disruption of Abcc6 in the mouse: novel insight in the pathogenesis of pseudoxanthoma elasticum;Gorgels;Hum Mol Genet,2005

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