title: Marked intrafamilial phenotypic heterogeneity in dystrophic epidermolysis bullosa caused by inheritance of a mild dominant glycine substitution and a novel deep intronic recessive COL7A1 mutation.
authors.affiliation: INSERM UMR 1163, Paris, France.|Imagine Institute, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.|University Paris Descartes Sorbonne Cité, Paris, France.
authors.forename: S
authors.initials: S
authors.lastname: Turczynski
authors.affiliation: INSERM UMR 1163, Paris, France.|Imagine Institute, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.|University Paris Descartes Sorbonne Cité, Paris, France.
authors.forename: M
authors.initials: M
authors.lastname: Titeux
authors.affiliation: INSERM UMR 1163, Paris, France.|Imagine Institute, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.|University Paris Descartes Sorbonne Cité, Paris, France.
authors.forename: N
authors.initials: N
authors.lastname: Pironon
authors.affiliation: Department of Dermatology, St George Hospital, University of New South Wales, Sydney, Australia.
authors.forename: H I
authors.initials: HI
authors.lastname: Cohn
authors.affiliation: Department of Dermatology, St George Hospital, University of New South Wales, Sydney, Australia.
authors.forename: D F
authors.initials: DF
authors.lastname: Murrell
authors.affiliation: INSERM UMR 1163, Paris, France.|Imagine Institute, INSERM UMR 1163, 24 boulevard du Montparnasse, 75015, Paris, France.|University Paris Descartes Sorbonne Cité, Paris, France.|Department of Genetics, Necker Hospital for Sick Children, APHP, Paris, France.
authors.forename: A
authors.initials: A
authors.lastname: Hovnanian
mesh_terms: D019943:Amino Acid Substitution / Q000235:genetics*; D002648:Child; D024143:Collagen Type VII / Q000235:genetics*; D016108:Epidermolysis Bullosa Dystrophica; D005998:Glycine / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide / Q000235:genetics
chemical_list: C569053:COL7A1 protein, human; D024143:Collagen Type VII; D005998:Glycine