Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

Journal of Medical Genetics

Volumn 36, Issue 2, 1999, Pages 115-118

  Barone, Virginia ^a   Massa, Ornella ^a   Intravaia, Elena ^b   Bracco, Adele ^c   Di Martino, Antonella ^c   Tegazzin, Vincenzo ^d   Cozzolino, Santolo ^c   Sorrentino, Vincenzo ^a,b  

^a SAN RAFFAELE HOSPITAL   (Italy)

^b UNIVERSITY OF SIENA   (Italy)

^c A O Cardarelli   (Italy)

^d Amb Diagnostica Prev I M   (Italy)

Author keywords

Central core disease; In vitro contracture test; Malignant hyperthermia; Ryanodine receptor

Indexed keywords

DNA; RYANODINE RECEPTOR;

AMINO ACID SUBSTITUTION; ARTICLE; DNA POLYMORPHISM; GENE FREQUENCY; HUMAN; MAJOR CLINICAL STUDY; MALIGNANT HYPERTHERMIA; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; RECEPTOR GENE; RESTRICTION MAPPING; SINGLE STRAND CONFORMATION POLYMORPHISM;

CAFFEINE; DNA PRIMERS; FEMALE; HALOTHANE; HUMANS; ITALY; MALE; MALIGNANT HYPERTHERMIA; MUSCLES; MYOPATHIES, NEMALINE; PEDIGREE; POINT MUTATION; POLYMORPHISM, GENETIC; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL;

EID: 0033052512     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

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