Mutational analysis of the ABCC6 gene an
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Veronika Schulz; Doris Hendig; Maja Henjakovic; Christiane Szliska; Knut Kleesie
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Article
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2006
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John Wiley and Sons
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English
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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