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Pmp22 super-enhancer deletion causes tomacula formation and conduction block in peripheral nerves

Copy number variation of the peripheral nerve myelin gene Peripheral Myelin Protein 22 (PMP22) causes multiple forms of inherited peripheral neuropathy. The duplication of a 1.4 Mb segment surrounding this gene in chromosome 17p12 (c17p12) causes the most common form of Charcot-Marie-Tooth disease t...

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Detalhes bibliográficos
Publicado no:Hum Mol Genet
Main Authors: Pantera, Harrison, Hu, Bo, Moiseev, Daniel, Dunham, Chris, Rashid, Jibraan, Moran, John J, Krentz, Kathleen, Rubinstein, C Dustin, Won, Seongsik, Li, Jun, Svaren, John
Formato: Artigo
Idioma:Inglês
Publicado em: Oxford University Press 2020
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7322568/
https://ncbi.nlm.nih.gov/pubmed/32356557
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddaa082
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