A novel mutation of p.F32I in GJA8 in human dominant congenital cataracts

AIM: To identify a causative mutation in a three-generation family with autosomal dominant congenital total cataract and dissect the molecular consequence of the identified mutation. METHODS: Clinical and ophthalmological examinations were performed on the affected and unaffected family members. Mut...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Int J Ophthalmol
Principais autores: Dang, Feng-Tao, Yang, Fa-Yu, Yang, Ye-Qin, Ge, Xiang-Lian, Chen, Ding, Zhang, Liu, Yu, Xin-Ping, Gu, Feng, Zhu, Yi-Hua
Formato: Artigo
Idioma:Inglês
Publicado em: International Journal of Ophthalmology Press 2016
Assuntos:
Basic Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5145082/
https://ncbi.nlm.nih.gov/pubmed/27990357
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.18240/ijo.2016.11.05
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registros relacionados