X inactivation in females with X-linked Charcot–Marie–Tooth disease

X-linked Charcot–Marie–Tooth disease (CMT1X) is the second most common inherited neuropathy, caused by mutations in gap junction beta-1 (GJB1). Males have a uniformly moderately severe phenotype while females have a variable phenotype, suggested to be due to X inactivation. We aimed to assess X inac...

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Detalhes bibliográficos
Main Authors: Murphy, Sinéad M., Ovens, Richard, Polke, James, Siskind, Carly E., Laurà, Matilde, Bull, Karen, Ramdharry, Gita, Houlden, Henry, Murphy, Raymond P.J., Shy, Michael E., Reilly, Mary M.
Formato: Artigo
Idioma:Inglês
Publicado em: Pergamon Press 2012
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3657177/
https://ncbi.nlm.nih.gov/pubmed/22483671
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.02.009
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