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Keating et al., 1994 - Google Patents

Detection of a novel RYR1 mutation in four malignant hyperthermia pedigrees

Keating et al., 1994

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Document ID
11520854657388524126
Author
Keating K
Quane K
Manning B
Lehane M
Hartung E
Censier K
Urwyler A
Klausnitzer M
Muller C
Heffron J
McCarthy T
Publication year
Publication venue
Human molecular genetics

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Malignant hyperthermia (MH) is a potentially fatal autosomal dominant disorder of skeletal muscle and is triggered in susceptible people by all commonly used inhalational anaesthetics and depolarizing muscle relaxants. To date, six mutations in the skeletal …
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