Ryanodine receptor mutations in malignant hyperthermia and central core disease

Human Mutation

Volumn 15, Issue 5, 2000, Pages 410-417

  McCarthy, Tommie V ^a   Quane, Kathleen A ^b   Lynch, Patrick J ^a,c  

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b University College Cork and INFANT Centre   (Ireland)

^c ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

CCD; Central core disease; Malignant hyperthermia; MH; Ryanodine receptor; RYR1

Indexed keywords

CALCIUM CHANNEL; RYANODINE RECEPTOR;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; CALCIUM HOMEOSTASIS; GENE LOCATION; GENE MUTATION; GENETIC POLYMORPHISM; GENETIC SUSCEPTIBILITY; HUMAN; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; MYOPATHY; PRIORITY JOURNAL; REVIEW;

AMINO ACID SUBSTITUTION; EXONS; HUMANS; MALIGNANT HYPERTHERMIA; MUSCLE, SKELETAL; MUTATION; MUTATION, MISSENSE; MYOPATHY, CENTRAL CORE; POLYMORPHISM, GENETIC; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 0034087446     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(200005)15:5<410::AID-HUMU2>3.0.CO;2-D     Document Type: Review

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