Effect of isolated AMP deaminase deficiency on skeletal muscle function()

Mutation of the AMP deaminase 1 (AMPD1) gene, the predominate AMPD gene expressed in skeletal muscle, is one of the most common inherited defects in the Caucasian population; 2–3% of individuals in this ethnic group are homozygous for defects in the AMPD1 gene. Several studies of human subjects have...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Cheng, Jidong, Morisaki, Hiroko, Sugimoto, Naomi, Dohi, Atsushi, Shintani, Takuya, Kimura, Erika, Toyama, Keiko, Ikawa, Masahito, Okabe, Masaru, Higuchi, Itsuro, Matsuo, Satoshi, Kawai, Yasuaki, Hisatome, Ichiro, Sugama, Takako, Holmes, Edward W., Morisaki, Takayuki
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2014
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5121310/
https://ncbi.nlm.nih.gov/pubmed/27896074
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2013.12.004
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