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Dominantly-Inherited Myotonia Congenita Resulting from a Mutation That Increases Open Probability of the Muscle Chloride Channel CLC-1

Myotonia congenita-inducing mutations in the muscle chloride channel CLC-1 normally result in reduced open probability (P(o)) of this channel. One well-accepted mechanism of the dominant inheritance of this disease involves a dominant-negative effect of the mutation on the function of the common gat...

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Detalhes bibliográficos
Main Authors: Richman, David P., Yu, Yawei, Lee, Ting-Ting, Tseng, Pang-Yen, Yu, Wei-Ping, Maselli, Ricardo A., Tang, Chih-Yung, Chen, Tsung-Yu
Formato: Artigo
Idioma:Inglês
Publicado em: 2012
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3508202/
https://ncbi.nlm.nih.gov/pubmed/22790975
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12017-012-8190-1
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