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Allelic Imbalance and Haploinsufficiency in MYBPC3-linked Hypertrophic Cardiomyopathy

Mutations in cardiac myosin binding protein C (MYBPC3) represent the most frequent cause of familial hypertrophic cardiomyopathy (HCM), making up approximately 50% of identified HCM mutations[4]. MYBPC3 is distinct among other sarcomere genes associated with HCM in that truncating mutations make up...

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Detalhes bibliográficos
Publicado no:Pflugers Arch
Main Authors: Glazier, Amelia A., Thompson, Andrea, Day, Sharlene M.
Formato: Artigo
Idioma:Inglês
Publicado em: 2018
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6476680/
https://ncbi.nlm.nih.gov/pubmed/30456444
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00424-018-2226-9
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