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Severe Molecular Defects Exhibited by the R179H Mutation in Human Vascular Smooth Muscle α-Actin

Mutations in vascular smooth muscle α-actin (SM α-actin), encoded by ACTA2, are the most common cause of familial thoracic aortic aneurysms that lead to dissection (TAAD). The R179H mutation has a poor patient prognosis and is unique in causing multisystemic smooth muscle dysfunction (Milewicz, D. M...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Lu, Hailong, Fagnant, Patricia M., Krementsova, Elena B., Trybus, Kathleen M.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2016
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5076841/
https://ncbi.nlm.nih.gov/pubmed/27551047
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M116.744011
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