Novel mutations at a CpG dinucleotide in the ryanodine receptor in malignant hyperthermia

Human Mutation

Volumn 11, Issue 1, 1998, Pages 45-50

  Manning, Bernadette M ^a   Quane, Kathleen A ^a   Lynch, Patrick J ^a   Urwyler, Albert ^b   Tegazzin, Vincenzo ^c   Krivosic Horber, Renee ^d   Censier, Kathrin ^b   Comi, Giacomo ^e   Adnet, Pascal ^d   Wolz, Werner ^f   Lunardi, Joel ^g   Muller, Clemens R ^f   McCarthy, Tommie V ^a  

^a UNIVERSITY COLLEGE CORK   (Ireland)

^b UNIVERSITY HOSPITAL BASEL   (Switzerland)

^c Traumatologic orthopaedic Hospital   (Italy)

^d LILLE UNIVERSITY HOSPITAL   (France)

^e UNIVERSITY OF MILAN   (Italy)

^f UNIVERSITY OF WÜRZBURG   (Germany)

^g GRENOBLE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CYSTEINE; DINUCLEOTIDE; HISTIDINE; RYANODINE RECEPTOR;

ARTICLE; COMPARATIVE STUDY; CPG ISLAND; GENE MUTATION; GENOTYPE; HUMAN; MALIGNANT HYPERTHERMIA; PEDIGREE; PHENOTYPE; PRIORITY JOURNAL; AMINO ACID SUBSTITUTION; FEMALE; GENETICS; MALE; METABOLISM; MUTATION;

AMINO ACID SUBSTITUTION; ARGININE; CPG ISLANDS; CYSTEINE; FEMALE; GENOTYPE; HISTIDINE; HUMANS; MALE; MALIGNANT HYPERTHERMIA; MUTATION; PEDIGREE; PHENOTYPE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 0031605644     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1998)11:1<45::AID-HUMU7>3.0.CO;2-K     Document Type: Article

References (24)

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