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

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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 θ = 0. This locus is close to the collagen type VII locus implying that abnormalities of this gene cause dominant dystrophic epidermolysis bullosa.

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Al-Imara, L., Richards, A. J., Eady, R. A. J., Leigh, I. M., Farrall, M., & Pope, F. M. (1992). Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus. Journal of Medical Genetics, 29(6), 381–382. https://doi.org/10.1136/jmg.29.6.381

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