Functional analysis of a nonstop mutation in MITF gene identified in a patient with Waardenburg syndrome type 2

Waardenburg syndrome (WS) is an autosomal dominant inherited neurogenic disorder with the combination of various degrees of sensorineural deafness and pigmentary abnormalities affecting the skin, hair and eye. The four subtypes of WS were defined on the basis of the presence or absence of additional...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Hum Genet
Main Authors: Sun, Jie, Hao, Ziqi, Luo, Hunjin, He, Chufeng, Mei, Lingyun, Liu, Yalan, Wang, Xueping, Niu, Zhijie, Chen, Hongsheng, Li, Jia-Da, Feng, Yong
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2017
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5489919/
https://ncbi.nlm.nih.gov/pubmed/28356565
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/jhg.2017.30
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados