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Analysis of MMP2 promoter polymorphisms in patients with pseudoxanthoma elasticum

✍ Scribed by Ralf Zarbock; Doris Hendig; Christiane Szliska; Knut Kleesiek; Christian Götting

Book ID
116348779
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
164 KB
Volume
411
Category
Article
ISSN
0009-8981

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Mutational analysis of the ABCC6 gene an
Mutational analysis of the ABCC6 gene and the proximal ABCC6 gene promoter in German patients with pseudoxanthoma elasticum (PXE)
✍ 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