Mutations in the KDM5C ARID Domain and Their Plausible Association with Syndromic Claes-Jensen-Type Disease

Mutations in KDM5C gene are linked to X-linked mental retardation, the syndromic Claes-Jensen-type disease. This study focuses on non-synonymous mutations in the KDM5C ARID domain and evaluates the effects of two disease-associated missense mutations (A77T and D87G) and three not-yet-classified miss...

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Detalles Bibliográficos
Autores principales: Peng, Yunhui, Suryadi, Jimmy, Yang, Ye, Kucukkal, Tugba G., Cao, Weiguo, Alexov, Emil
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2015
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4661880/
https://www.ncbi.nlm.nih.gov/pubmed/26580603
http://dx.doi.org/10.3390/ijms161126022

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4661880/
https://www.ncbi.nlm.nih.gov/pubmed/26580603
http://dx.doi.org/10.3390/ijms161126022

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