Identical Intragenic MicrosateUite Haplotype Found in Cystic Fibrosis Chromosomes Bearing Mutation G551D in Irish, English, Scottish, Breton and Czech Patients (original) (raw)

Human Heredity, 1995

Abstract

Mutation G551D of exon 11 of the cystic fibrosis transmembrane conductance regulator gene is one of the most common mutations in patients of European origin. In order to test the hypothesis that the mutation is identical by descent in these patients, we have studied haplotypes for the three intragenic microsateUite markers IVS8CA, IVS17bTA and IVS17bCA from 92 patients bearing this

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