Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy

Hypertrophic cardiomyopathy (HCM) is a highly heterogeneous disease displaying considerable interfamilial and intrafamilial phenotypic variation, including disease severity, age of onset, and disease progression. This poorly understood variance raises the possibility of genetic modifier effects, par...

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Publicado en:Medicine (Baltimore)
Autores principales: Zhang, Xinlin, Xie, Jun, Zhu, Suhui, Chen, Yuhan, Wang, Lian, Xu, Biao
Formato: Artigo
Lenguaje:Inglês
Publicado: Wolters Kluwer Health 2017
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3400
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5478307/
https://ncbi.nlm.nih.gov/pubmed/28614222
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1097/MD.0000000000007010
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