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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Foilsithe in: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
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2016
Ábhair:
Report
Rochtain Ar Líne: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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