High Prevalence of Posterior Polymorphous Corneal Dystrophy in the Czech Republic; Linkage Disequilibrium Mapping and Dating an Ancestral Mutation

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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Public Library of Science 2012
Aiheet:
Research Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC3458081/
https://ncbi.nlm.nih.gov/pubmed/23049806
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0045495
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