Yüklüyor......

Identification and population history of CYP4V2 mutations in patients with Bietti crystalline corneoretinal dystrophy

To identify known and novel CYP4V2 mutations in patients with Bietti crystalline cornea (BCD), expand the spectrum of CYP4V2 mutations, and characterize the population history of the c.802-8_810del17insGC mutation common in Asian populations, genomic DNA was isolated from peripheral blood samples fr...

Ful tanımlama

Kaydedildi:
Detaylı Bibliyografya
Yayımlandı:Eur J Hum Genet
Asıl Yazarlar: Jiao, Xiaodong, Li, Anren, Jin, Zi-Bing, Wang, Xinjing, Iannaccone, Alessandro, Traboulsi, Elias I, Gorin, Michael B, Simonelli, Francesca, Hejtmancik, J Fielding
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Nature Publishing Group 2017
Konular:
Online Erişim:https://ncbi.nlm.nih.gov/pmc/articles/PMC5386409/
https://ncbi.nlm.nih.gov/pubmed/28051075
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.184
Etiketler: Etiketle
Etiket eklenmemiş, İlk siz ekleyin!