Title : Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).

Pub. Date : 2006 Aug

PMID : 16923137






1 Functional Relationships(s)
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1 The case 1 and 2 patients and their fathers revealed a heterozygous nucleotide G to A transition at position 6109 and 6082 in 73 exon of COL7A1, which resulted in a glycine to arginine substitution (G2037R and G2028R), respectively. Glycine collagen type VII alpha 1 chain Homo sapiens