Identification of Two Novel Frameshift Mutations of the ADAR1 Gene in Two Chinese Families With Dyschromatosis Symmetrica Hereditaria

BACKGROUND: Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant skin disease. The mutation of the ADAR1 gene is the pathogenesis of this disorder. AIMS: This study aimed to identify the mutations of the ADAR1 gene in two Chinese families with DSH. METHODS AND MATERIALS: Eight pa...

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Detalles Bibliográficos
Autores principales: Ning, Xiaoying, Xiao, Shengxiang, Zhang, Yanfei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792020/
https://www.ncbi.nlm.nih.gov/pubmed/36578712
http://dx.doi.org/10.4103/ijd.ijd_207_21

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9792020/
https://www.ncbi.nlm.nih.gov/pubmed/36578712
http://dx.doi.org/10.4103/ijd.ijd_207_21

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