Title : A novel COL7A1 gene mutation causing pretibial epidermolysis bullosa: report of a Chinese family with intra-familial phenotypical diversity.

Pub. Date : 2013 Jul 25

PMID : 23624125






1 Functional Relationships(s)
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1 In this study, a novel heterozygous nucleotide G>T transition at position 6101 in exon 73 of COL7A1 was detected, which resulted in a glycine to valine substitution (G2034V) in the triple-helical domain of type-VII collagen. Glycine collagen type VII alpha 1 chain Homo sapiens