A subunit of V-ATPases, ATP6V1B2, underlies the pathology of intellectual disability

BACKGROUND: Dominant deafness-onychodystrophy (DDOD) syndrome is a rare disorder mainly characterized by severe deafness, onychodystrophy and brachydactyly. We previously identified c.1516C > T (p.Arg506X) in ATP6V1B2 as cause of DDOD syndrome, accounting for all cases of this genetic disorder. C...

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Detalles Bibliográficos
Autores principales: Zhao, Weihao, Gao, Xue, Qiu, Shiwei, Gao, Bo, Gao, Song, Zhang, Xin, Kang, Dongyang, Han, Weiju, Dai, Pu, Yuan, Yongyi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Research paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642280/
https://www.ncbi.nlm.nih.gov/pubmed/31257146
http://dx.doi.org/10.1016/j.ebiom.2019.06.035

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6642280/
https://www.ncbi.nlm.nih.gov/pubmed/31257146
http://dx.doi.org/10.1016/j.ebiom.2019.06.035

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