A novel ryanodine receptor mutation and genotype-phenotype correlation in a large malignant hyperthermia New Zealand Maori pedigree

Human Molecular Genetics

Volumn 9, Issue 10, 2000, Pages 1515-1524

  Brown, Rosemary L ^a   Neil Pollock, A ^b   Couchman, Kenneth G ^b   Hodges, Michael ^b   Hutchinson, David O ^c   Waaka, Rupene ^f   Lynch, Patrick ^d,e   McCarthy, Tommie V ^d   Stowell, Kathryn M ^a  

^a MASSEY UNIVERSITY   (New Zealand)

^b PALMERSTON NORTH HOSPITAL   (New Zealand)

^c AUCKLAND CITY HOSPITAL   (New Zealand)

^d UNIVERSITY COLLEGE CORK   (Ireland)

^e ADDENBROOKE S HOSPITAL   (United Kingdom)

^f NONE

Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; ISOLEUCINE; RYANODINE RECEPTOR; THREONINE;

AMINO ACID SUBSTITUTION; ARTICLE; CARBOXY TERMINAL SEQUENCE; DNA SEQUENCE; ETHNIC GROUP; GENE MUTATION; GENETIC LINKAGE; GENOTYPE; HUMAN; HUMAN TISSUE; MAJOR CLINICAL STUDY; MALIGNANT HYPERTHERMIA; NEW ZEALAND; PHENOTYPE; PRIORITY JOURNAL;

EID: 0343184068     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.10.1515     Document Type: Article

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