A recurrent 'hot spot' glycine substitution mutation, G2043R in COL7A1, induces dominant dystrophic epidermolysis bullosa associated with intracytoplasmic accumulation of pro-collagen VII.

J Dermatol Sci

Department of Dermatology, Hokkaido University Graduate School of Medicine, N15W7, Kita-ku, Sapporo 060-8638, Japan.

Published: July 2014

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http://dx.doi.org/10.1016/j.jdermsci.2014.04.006	DOI Listing

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