Novel missense mutations and unexpected multiple changes of RYR1 gene in 75 malignant hyperthermia families

Clinical Genetics

Volumn 79, Issue 5, 2011, Pages 438-447

  Tammaro, A ^a   Di Martino, A ^a   Bracco, A ^a   Cozzolino, S ^a   Savoia, G ^a   Andria, B ^a   Cannavo, A ^a   Spagnuolo, M ^a   Piluso, G ^b   Aurino, S ^c   Nigro, V ^b,c  

^a CARDARELLI HOSPITAL   (Italy)

^b SECOND UNIVERSITY OF NAPLES   (Italy)

^c TELETHON INSTITUTE OF GENETICS AND MEDICINE TIGEM   (Italy)

Author keywords

Malignant hyperthermia; Penetrance; Ryanodine receptor; Skeletal muscle disorders

Indexed keywords

CALCIUM CHANNEL L TYPE; PROTEIN CACNA 1S; PROTEIN CACNL 2A; PROTEIN SCN 4A; RYANODINE RECEPTOR 1; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL;

ARTICLE; CALCIUM HOMEOSTASIS; CLINICAL ARTICLE; EXON; FEMALE; GENE LOCUS; GENETIC HETEROGENEITY; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; MALE; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL;

CALCIUM CHANNELS; FAMILY; HAPLOTYPES; HUMANS; MALIGNANT HYPERTHERMIA; MUTATION, MISSENSE; PEDIGREE; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SODIUM CHANNELS;

EID: 79953748508     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2010.01493.x     Document Type: Article

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