Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus.
basic_science · Level V
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- Record sourced from PubMed, PMID 1377750.
- Also identified by PMC identifier 1015986.
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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
- Chromosomes, Human, Pair 3
- Collagen
- Epidermolysis Bullosa Dystrophica
- Genetic Linkage