Rhabdomyolysis-Associated Mutations in Human LPIN1 Lead to Loss of Phosphatidic Acid Phosphohydrolase Activity

Rhabdomyolysis is an acute syndrome due to extensive injury of skeletal muscle. Recurrent rhabdomyolysis is often caused by inborn errors in intermediary metabolism, and recent work has suggested that mutations in the human gene encoding lipin 1 (LPIN1) may be a common cause of recurrent rhabdomyoly...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Schweitzer, George G., Collier, Sara L., Chen, Zhouji, Eaton, James M., Connolly, Anne M., Bucelli, Robert C., Pestronk, Alan, Harris, Thurl E., Finck, Brian N.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4484911/
https://ncbi.nlm.nih.gov/pubmed/25967228
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_440
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