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