title: Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.
authors.forename: M
authors.initials: M
authors.lastname: Ritelli
authors.forename: N
authors.initials: N
authors.lastname: Chiarelli
authors.forename: S
authors.initials: S
authors.lastname: Quinzani
authors.forename: C
authors.initials: C
authors.lastname: Dordoni
authors.forename: M
authors.initials: M
authors.lastname: Venturini
authors.forename: P
authors.initials: P
authors.lastname: Calzavara-Pinton
authors.forename: M
authors.initials: M
authors.lastname: Colombi
mesh_terms: D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D011401:Promoter Regions, Genetic / Q000235:genetics*
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII