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Transcriptional Regulation and Characterization of the Promoter Region of the Human ABCC6 Gene

โœ Scribed by Jiang, Qiujie; Matsuzaki, Yasushi; Li, Kehua; Uitto, Jouni

Book ID
110049146
Publisher
Nature Publishing Group
Year
2006
Tongue
English
Weight
338 KB
Volume
126
Category
Article
ISSN
0022-202X

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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