Genetic spectrum of dyschromatosis symmetrica hereditaria in Chinese patients including a novel nonstop mutation in ADAR1 gene

BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of seven unrelated families and two sporadic cases with DSH for mutations in the...

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Detalles Bibliográficos
Autores principales: Zhang, Guolong, Shao, Minhua, Li, Zhixiu, Gu, Yong, Du, Xufeng, Wang, Xiuli, Li, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759768/
https://www.ncbi.nlm.nih.gov/pubmed/26892242
http://dx.doi.org/10.1186/s12881-015-0255-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4759768/
https://www.ncbi.nlm.nih.gov/pubmed/26892242
http://dx.doi.org/10.1186/s12881-015-0255-1

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