Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.

al-Imara, L; Richards, A J; Eady, R A; Leigh, I M; Farrall, M; Pope, F M · J Med Genet · 1992

basic_science · Level V

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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.

Medical subject headings