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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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Detalhes bibliográficos
Publicado no:Int J Mol Sci
Main Authors: Peng, Yunhui, Suryadi, Jimmy, Yang, Ye, Kucukkal, Tugba G., Cao, Weiguo, Alexov, Emil
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4661880/
https://ncbi.nlm.nih.gov/pubmed/26580603
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms161126022
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