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






2 Functional Relationships(s)
Download
Sentence
Compound Name
Protein Name
Organism
1 Dominant dystrophic epidermolysis bullosa (Pasini) caused by a novel glycine substitution mutation in the type VII collagen gene (COL7A1). Glycine collagen type VII alpha 1 chain Homo sapiens
2 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). Glycine collagen type VII alpha 1 chain Homo sapiens