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...

Descrición completa

Gardado en:
Detalles Bibliográficos
Publicado en: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: Nature Publishing Group 2017
Assuntos:
Original Article
Acceso en liña: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: Engadir etiqueta
Sen Etiquetas, Sexa o primeiro en etiquetar este rexistro!

Títulos similares