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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Detalles Bibliográficos
Autores principales: Zhang, Xinlin, Xie, Jun, Zhu, Suhui, Chen, Yuhan, Wang, Lian, Xu, Biao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2017
Materias:
3400
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478307/
https://www.ncbi.nlm.nih.gov/pubmed/28614222
http://dx.doi.org/10.1097/MD.0000000000007010

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5478307/
https://www.ncbi.nlm.nih.gov/pubmed/28614222
http://dx.doi.org/10.1097/MD.0000000000007010

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