Article
Implications of intragenic marker homozygosity and haplotype sharing in a rare autosomal recessive disorder: the example of the collagen type XVII (COL17A1) locus in generalised atrophic benign epidermolysis bullosa.
Human genetics - 1 Aug 1997
Scheffer H, Stulp R P, Verlind E, van der Meulen M, Bruckner-Tuderman L, Gedde-Dahl T, te Meerman G J, Sonnenberg A, Buys C H, Jonkman M F
Abstract excerpt
Generalised atrophic benign epidermolysis bullosa (GABEB) is a form of junctional epidermolysis bullosa with a recessive mode of inheritance. The gene considered likely to be involved in this disease is COL17A1, since in the majority of GABEB patients the product of that gene, the 180-kD bullous...
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