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Identification of a novel deletion in the ABCC6 gene leading to Pseudoxanthoma elasticum

โœ Scribed by KATONA, E; ASLANIDIS, C; REMENYIK, E; CSIKOS, M; KARPATI, S; PARAGH, G; SCHMITZ, G

Book ID
119293091
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
211 KB
Volume
40
Category
Article
ISSN
0923-1811

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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