Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus

Keratoconus (KTCN), a non-inflammatory corneal disorder characterized by stromal thinning, represents a major cause of corneal transplantations. Genetic and environmental factors have a role in the etiology of this complex disease. Previously reported linkage analysis revealed that chromosomal regio...

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Hlavní autoři: Czugala, Marta, Karolak, Justyna A, Nowak, Dorota M, Polakowski, Piotr, Pitarque, Jose, Molinari, Andrea, Rydzanicz, Malgorzata, Bejjani, Bassem A, Yue, Beatrice Y J T, Szaflik, Jacek P, Gajecka, Marzena
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2012
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3306853/
https://ncbi.nlm.nih.gov/pubmed/22045297
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2011.203
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