Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: Implication for genetic counselling and clinical management

Human Mutation

Volumn 32, Issue 9, 2011, Pages 995-999

  Roux Buisson, Nathalie ^a,b   Rendu, John ^a,c   Denjoy, Isabelle ^d,e   Guicheney, Pascale ^e,f   Goldenberg, Alice ^g   David, Nadine ^g   Faivre, Laurence ^h   Barthez, Olivier ^h   Danieli, Gian Antonio ⁱ   Marty, Isabelle ^c   Lunardi, Joel ^a,c   Fauré, Julien ^a,c  

^a GRENOBLE UNIVERSITY HOSPITAL   (France)

^b LABORATOIRE TIMC IMAG   (France)

^c GRENOBLE INSTITUT DES NEUROSCIENCES   (France)

^d HÔPITAL LARIBOISIÈRE   (France)

^e INSERM   (France)

^f Institute OfCardiometabolism and Nutrition   (France)

^g ROUEN UNIVERSITY HOSPITAL   (France)

^h DIJON UNIVERSITY HOSPITAL   (France)

ⁱ UNIVERSITY OF PADOVA   (Italy)

Author keywords

Calsequestrin 2; CPVT; Minigene; Synonymous variations

Indexed keywords

CALSEQUESTRIN;

ARTICLE; CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA; CLINICAL ARTICLE; GENE DELETION; GENE FUNCTION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC COUNSELING; HUMAN; NUCLEOTIDE SEQUENCE; PEDIGREE; PRIORITY JOURNAL; RNA SPLICING;

BASE SEQUENCE; CALSEQUESTRIN; FAMILY; FEMALE; GENETIC COUNSELING; HEK293 CELLS; HUMANS; MALE; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; POLYMORPHISM, SINGLE NUCLEOTIDE; RNA SPLICING; TACHYCARDIA, VENTRICULAR;

EID: 80051673934     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21537     Document Type: Article

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