A Spectrum of ABCC6 Mutations Is Responsible for Pseudoxanthoma Elasticum

To better understand the pathogenetics of pseudoxanthoma elasticum (PXE), we performed a mutational analysis of ATP-binding cassette subfamily C member 6 (ABCC6) in 122 unrelated patients with PXE, the largest cohort of patients yet studied. Thirty-six mutations were characterized, and, among these,...

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Detalhes bibliográficos
Main Authors: Le Saux, Olivier, Beck, Konstanze, Sachsinger, Christine, Silvestri, Chiara, Treiber, Carina, Göring, Harald H. H., Johnson, Eric W., De Paepe, Anne, Pope, F. Michael, Pasquali-Ronchetti, Ivonne, Bercovitch, Lionel, Terry, Sharon, Boyd, Charles D.
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society of Human Genetics 2001
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Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1226061/
https://ncbi.nlm.nih.gov/pubmed/11536079
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