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Mutation analysis (ABCC6) in a family with pseudoxanthoma elasticum: presymptomatic testing with prognostic implications

✍ Scribed by Q. Li; L. Török; L. Kocsis; J. Uitto


Book ID
108671272
Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
269 KB
Volume
163
Category
Article
ISSN
0007-0963

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Mutational analysis of the ABCC6 gene an
✍ Veronika Schulz; Doris Hendig; Maja Henjakovic; Christiane Szliska; Knut Kleesie 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 424 KB

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