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Variants in ASPH cause exertional heat illness and are associated with malignant hyperthermia susceptibility
oleh: Yukari Endo, Linda Groom, Alper Celik, Natalia Kraeva, Chang Seok Lee, Sung Yun Jung, Lois Gardner, Marie-Anne Shaw, Susan L. Hamilton, Philip M. Hopkins, Robert T. Dirksen, Sheila Riazi, James J. Dowling
Format: | Article |
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Diterbitkan: | Nature Portfolio 2022-06-01 |
Deskripsi
The genetic cause(s) of malignant hyperthermia and exertional heat illness are unknown in approximately 30% of cases. To address this barrier, the authors performed genome sequencing on a large cohort of cases, identifying rare variants in ASPH, a gene encoding junctin, and validating themĀ in animal and cell models.