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Novel ABCC6 Mutations in Pseudoxanthoma Elasticum

✍ Scribed by Chassaing, Nicolas; Martin, Ludovic; Mazereeuw, Juliette; Barrie, Laurence; Nizard, Sonia; Bonafe, Jean-Louis; Calvas, Patrick; Hovnanian, Alain

Book ID: 110733092
Publisher: Nature Publishing Group
Year: 2004
Tongue: English
Weight: 89 KB
Volume: 122
Category: Article
ISSN: 0022-202X
DOI: 10.1111/j.0022-202x.2004.22312.x

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Pseudoxanthoma elasticum (PXE) is a systemic heritable disorder that affects the elastic tissue in the skin, eye, and cardiovascular system. Mutations in the ABCC6 gene cause PXE. We performed a mutation screen in ABCC6 using haplotype analysis in conjunction with direct sequencing to achieve a muta