Title : Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1).

Pub. Date : 1999 May

PMID : 10233777






1 Functional Relationships(s)
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1 Mutation detection of the COL7A1 gene revealed a G-->A transition at nucleotide position 6110 in the mutant allele converting a glycine to glutamic acid (G2037E). Glutamic Acid collagen type VII alpha 1 chain Homo sapiens