Article
High prevalence of posterior polymorphous corneal dystrophy in the Czech Republic; linkage disequilibrium mapping and dating an ancestral mutation.
PloS one - 1 Jan 2012
Liskova Petra, Gwilliam Rhian, Filipec Martin, Jirsova Katerina, Reinstein Merjava Stanislava, Deloukas Panos, Webb Tom R, Bhattacharya Shomi S, Ebenezer Neil D, Morris Alex G, Hardcastle Alison J
Abstract excerpt
Posterior polymorphous corneal dystrophy (PPCD) is a rare autosomal dominant genetically heterogeneous disorder. Nineteen Czech PPCD pedigrees with 113 affected family members were identified, and 17 of these kindreds were genotyped for markers on chromosome 20p12.1- 20q12. Comparison of haplotypes in 81 affected members, 20 unaffected first degree relatives and 13 spouses, as well as 55 unrelated controls,...
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