Cargando...

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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en:Eur J Hum Genet
Main Authors: Jiao, Xiaodong, Li, Anren, Jin, Zi-Bing, Wang, Xinjing, Iannaccone, Alessandro, Traboulsi, Elias I, Gorin, Michael B, Simonelli, Francesca, Hejtmancik, J Fielding
Formato: Artigo
Idioma:Inglês
Publicado: Nature Publishing Group 2017
Assuntos:
Acceso en liña: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
Tags: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!