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ABCC6/MRP6 mutations: further insight into the molecular pathology of pseudoxanthoma elasticum

โœ Scribed by Hu, Xiaofeng; Plomp, Astrid; Wijnholds, Jan; ten Brink, Jacoline; van Soest, Simone; van den Born, L Ingeborgh; Leys, Anita; Peek, Ron; de Jong, Paulus T V M; Bergen, Arthur A B

Book ID
110025370
Publisher
Nature Publishing Group
Year
2003
Tongue
English
Weight
160 KB
Volume
11
Category
Article
ISSN
1018-4813

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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

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Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)
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Pseudoxanthoma elasticum (PXE) is a genetic disorder characterized by calcification of elastic fibers in dermal, ocular, and cardiovascular tissues. Recently, ABCC6 mutations were identified as causing PXE. In this follow-up study we report the investigation of 61German PXE patients from 53 families