Title : Diagnostic dilemma of "sporadic" cases of dystrophic epidermolysis bullosa: a new dominant or mitis recessive mutation?

Pub. Date : 1999 Apr

PMID : 10232406






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 The second case had a single glycine substitution mutation (G2079E) in COL7A1 and had therefore DDEB. Glycine collagen type VII alpha 1 chain Homo sapiens