Title : A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity.

Pub. Date : 2009 Jan-Feb

PMID : 19250433






2 Functional Relationships(s)
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1 A novel glycine mutation in the COL7A1 gene leading to dominant dystrophic epidermolysis bullosa with intra-familial phenotypical heterogeneity. Glycine collagen type VII alpha 1 chain Homo sapiens
2 Finally, mutational analysis revealed a novel glycine substitution mutation in the COL7A1 gene in three affected family members. Glycine collagen type VII alpha 1 chain Homo sapiens