Next-generation sequencing (NGS) as a molecular diagnostic tool for hypertrophic cardiomyopathy in a Chinese boy due to novel compound heterozygous mutations in the MYBPC3 gene: A case report

RATIONALE: Hypertrophic cardiomyopathy (HCM) is mainly caused by mutations in genes encoding sarcomeric proteins. One of the most commonly mutated HCM genes is the MYBPC3 gene. Mutations in this gene lead mainly to truncation of the protein, which gives rise to a relatively severe phenotype. Analyse...

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Detalles Bibliográficos
Autores principales: Chen, Xu, Jiang, Jun, Zhu, Weiliang, Wu, Yuan, Su, Maolong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer Health 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708657/
https://www.ncbi.nlm.nih.gov/pubmed/30896616
http://dx.doi.org/10.1097/MD.0000000000014676

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6708657/
https://www.ncbi.nlm.nih.gov/pubmed/30896616
http://dx.doi.org/10.1097/MD.0000000000014676

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