title: Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.
abstract: Linkage of the anonymous marker D3S2 at 3p21 has been shown in three British families with dominant dystrophic epidermolysis bullosa with a combined lod score of 6.75 at theta = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.
authors.affiliation: Dermatology Research Group, Northwick Park Hospital, Harrow, Middlesex.
authors.forename: L
authors.initials: L
authors.lastname: al-Imara
authors.forename: A J
authors.initials: AJ
authors.lastname: Richards
authors.forename: R A
authors.initials: RA
authors.lastname: Eady
authors.forename: I M
authors.initials: IM
authors.lastname: Leigh
authors.forename: M
authors.initials: M
authors.lastname: Farrall
authors.forename: F M
authors.initials: FM
authors.lastname: Pope
mesh_terms: D002893:Chromosomes, Human, Pair 3; D003094:Collagen / Q000235:genetics*; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific / Q000378:metabolism; D016108:Epidermolysis Bullosa Dystrophica / Q000235:genetics*; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D012150:Polymorphism, Restriction Fragment Length
chemical_list: D005819:Genetic Markers; D003094:Collagen; D019003:Deoxyribonuclease HpaII; D015252:Deoxyribonucleases, Type II Site-Specific