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...

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Detalles Bibliográficos
Autores principales: Sun, Jie, Hao, Ziqi, Luo, Hunjin, He, Chufeng, Mei, Lingyun, Liu, Yalan, Wang, Xueping, Niu, Zhijie, Chen, Hongsheng, Li, Jia-Da, Feng, Yong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group 2017
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5489919/
https://www.ncbi.nlm.nih.gov/pubmed/28356565
http://dx.doi.org/10.1038/jhg.2017.30

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