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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Vydáno v:J Hum Genet
Hlavní autoři: Sun, Jie, Hao, Ziqi, Luo, Hunjin, He, Chufeng, Mei, Lingyun, Liu, Yalan, Wang, Xueping, Niu, Zhijie, Chen, Hongsheng, Li, Jia-Da, Feng, Yong
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2017
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Original Article
On-line přístup: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
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