Next-generation sequencing and bioinformatics to identify genetic causes of malignant hyperthermia.

CONCLUSION: NGS and bioinformatics are sensitive and specific tools to examine RYR1 and CACNA1S for the genetic diagnosis of MH. Pathogenic variants in RYR1 can be found in the majority of MH patients in Taiwan.
PMID: 32919876 [PubMed - as supplied by publisher]

Source: J Formos Med Assoc - September 8, 2020 Category: General Medicine Authors: Yeh HM, Liao MH, Chu CL, Lin YH, Sun WZ, Lai LP, Chen PL Tags: J Formos Med Assoc Source Type: research