Heterozygous deletions at the ZEB1 locus verify haploinsufficiency as the mechanism of disease for posterior polymorphous corneal dystrophy type 3

A substantial proportion of patients with posterior polymorphous corneal dystrophy (PPCD) lack a molecular diagnosis. We evaluated 14 unrelated probands who had a clinical diagnosis of PPCD who were previously determined to be negative for mutations in ZEB1 by direct sequencing. A combination of tec...

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Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Liskova, Petra, Evans, Cerys J, Davidson, Alice E, Zaliova, Marketa, Dudakova, Lubica, Trkova, Marie, Stranecky, Viktor, Carnt, Nicole, Plagnol, Vincent, Vincent, Andrea L, Tuft, Stephen J, Hardcastle, Alison J
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2016
Konular:
Article
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5070886/
https://ncbi.nlm.nih.gov/pubmed/26508574
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2015.232
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