Whole Exome Sequencing Revealing RYR1 Pathogenic Variant in an Exceptional Family with Malignant Hyperthermia Susceptibility

Whole Exome Sequencing Revealing RYR1 Pathogenic Variant in an Exceptional Family with Malignant Hyperthermia Susceptibility

Objective: To use whole exome sequencing (WES) in identifying pathogenic allele(s) in a challenging family of which specimen of the malignant hyperthermia (MH)-suspected case was not available. Points related to genetic counseling were also discussed. Materials and Methods: A counselee walked in for...

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Main Authors: Arthaporn Khongkraparn, Nitcha Khunin, Thipwimol Tim-Aroon, Tanit Virankabutra, Duangrurdee Wattanasirichaigoon
Other Authors: Faculty of Medicine Ramathibodi Hospital, Mahidol University
Format: Article
Published: 2022
Subjects:
Medicine
Online Access:https://repository.li.mahidol.ac.th/handle/123456789/75082
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Institution: Mahidol University

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https://repository.li.mahidol.ac.th/handle/123456789/75082

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