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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Publicat a:Am J Hum Genet
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2016
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Accés en línia: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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