A Novel Splicing Mutation of KIT Results in Piebaldism and Auburn Hair Color in a Chinese Family

Piebaldism is a rare autosomal dominant disorder of melanocyte development, which is mostly caused by KIT gene. The key characteristics of piebaldism include localized poliosis, congenital leukoderma, and other variable manifestations. The previous study has illustrated that the homogeneous MC1R (a...

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Detalhes bibliográficos
Main Authors: Yang, Yong-jia, Zhao, Rui, He, Xin-yu, Li, Li-ping, Wang, Ke-wei, Zhao, Liu, Tu, Ming, Tang, Jin-song, Xie, Zhi-guo, Zhu, Yi-min
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2013
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3755434/
https://ncbi.nlm.nih.gov/pubmed/24000325
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2013/689756
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