Title : A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa.

Pub. Date : 2000 Apr

PMID : 10836608






2 Functional Relationships(s)
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1 A de novo glycine substitution mutation in the collagenous domain of COL7A1 in dominant dystrophic epidermolysis bullosa. Glycine collagen type VII alpha 1 chain Homo sapiens
2 In this study, we report a novel de novo glycine substitution mutation in COL7A1 in a Chinese female patient presenting with mild DEB. Glycine collagen type VII alpha 1 chain Homo sapiens