Seven novel mutations of ADAR in multi‐ethnic pedigrees with dyschromatosis symmetrica hereditaria in China

BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH;OMIM: #127400) is a rare autosomal dominant skin disease of hyperpigmented and hypopigmented macules on the dorsal aspects of the feet and hands. The adenosine deaminase RNA‐Specific (ADAR;OMIM: *146920) gene was identified as causing DSH. Altho...

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Detalles Bibliográficos
Autores principales: Wang, Peng, Yu, Shirong, Liu, Jianyong, Zhang, Dezhi, Kang, Xiaojing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785447/
https://www.ncbi.nlm.nih.gov/pubmed/31423758
http://dx.doi.org/10.1002/mgg3.905

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6785447/
https://www.ncbi.nlm.nih.gov/pubmed/31423758
http://dx.doi.org/10.1002/mgg3.905

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