Biallelic Mutations in UNC80 Cause Persistent Hypotonia, Encephalopathy, Growth Retardation, and Severe Intellectual Disability

Ion channel proteins are required for both the establishment of resting membrane potentials and the generation of action potentials. Hundreds of mutations in genes encoding voltage-gated ion channels responsible for action potential generation have been found to cause severe neurological diseases. I...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Stray-Pedersen, Asbjørg, Cobben, Jan-Maarten, Prescott, Trine E., Lee, Sora, Cang, Chunlei, Aranda, Kimberly, Ahmed, Sohnee, Alders, Marielle, Gerstner, Thorsten, Aslaksen, Kathinka, Tétreault, Martine, Qin, Wen, Hartley, Taila, Jhangiani, Shalini N., Muzny, Donna M., Tarailo-Graovac, Maja, van Karnebeek, Clara D.M., Lupski, James R., Ren, Dejian, Yoon, Grace
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2016
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4716670/
https://ncbi.nlm.nih.gov/pubmed/26708751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2015.11.004
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