Whole exome sequencing revealed a pathogenic variant in a gene related to malignant hyperthermia in a Vietnamese cardiac surgical patient: A case report

INTRODUCTION: Malignant hyperthermia (MH) is a rare autosomal dominant pharmacogenetic disorder which known associated with some genes such as CACNA1S and RYR1. Using whole exome analysis, we aimed to find out the genetic variant data in a malignant hyperthermia patient undergoing cardiac surgery. P...

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Detalles Bibliográficos
Autores principales: Nguyen, Tran-Thuy, Le, Ngoc-Thanh, Nguyen, Thuy-Mau Thi, Nguyen, Huy-Hoang, Nguyen, Kim-Lien Thi, Dinh, Long Doan, Nguyen, The-Binh, Do, Anh Tien, Nguyen, Cong Huu, Nguyen, Trung-Hieu, Pham, Hong-Nhung Thi, Vu, Thom Thi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849130/
https://www.ncbi.nlm.nih.gov/pubmed/31737266
http://dx.doi.org/10.1016/j.amsu.2019.10.030

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6849130/
https://www.ncbi.nlm.nih.gov/pubmed/31737266
http://dx.doi.org/10.1016/j.amsu.2019.10.030

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