ISSN:
1546-1718
Source:
Nature Archives 1869 - 2009
Topics:
Biology
,
Medicine
Notes:
[Auszug] We have identified mutations in keratins K5 (Arg331Cys) and K14 (Val270Met) in two kinships affected by the dominantly–inherited skin blistering disease, Weber–Cockayne epidermolysis bullosa simplex (EBS–WC). Linkage analysis, DNA sequencing and clinical and ultrastructural ...
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1038/ng1193-294
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