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93 A novel mutation of LDLR gene in a patient with pseudoxanthoma elasticum (PXE): Implications for the treatment


Book ID
117638720
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
156 KB
Volume
15
Category
Article
ISSN
0939-4753

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Mutational analysis of the ABCC6 gene an
✍ Veronika Schulz; Doris Hendig; Maja Henjakovic; Christiane Szliska; Knut Kleesie πŸ“‚ Article πŸ“… 2006 πŸ› John Wiley and Sons 🌐 English βš– 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