Identification of CACNA1A large deletions in four patients with episodic ataxia

Neurogenetics

Volumn 11, Issue 1, 2010, Pages 101-106

  Riant, Florence ^a,b   Lescoat, Christelle ^a   Vahedi, Katayoun ^c   Kaphan, Elsa ^d   Toutain, Annick ^e   Soisson, Thierry ^f   Wiener Vacher, Sylvette R ^c   Tournier Lasserve, Elisabeth ^a,b,g  

^a HÔPITAL LARIBOISIÈRE   (France)

^b INSERM   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d ASSISTANCE PUBLIQUE HÔPITAUX DE MARSEILLE   (France)

^e CHU BRETONNEAU   (France)

^f Cabinet de Neurologie   (France)

^g UNIVERSITÉ PARIS DESCARTES   (France)

Author keywords

CACNA1A; Deletion; EA2; Episodic ataxia

Indexed keywords

ARTICLE; ATAXIA; CACNA1A GENE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA REPAIR; DNA STRAND BREAKAGE; EPISODIC ATAXIA; EXON; FEMALE; GENE; GENE DELETION; GENE INSERTION; GENE SEQUENCE; HUMAN; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUTATIONAL ANALYSIS; PHENOTYPE; PRIORITY JOURNAL;

ADULT; AGED; BASE SEQUENCE; CALCIUM CHANNELS; FAMILY HEALTH; FEMALE; GENE DELETION; HUMANS; MALE; MIDDLE AGED; MOLECULAR SEQUENCE DATA; PEDIGREE; POINT MUTATION; SEQUENCE HOMOLOGY, NUCLEIC ACID; SPINOCEREBELLAR ATAXIAS;

EID: 76549124470     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-009-0208-y     Document Type: Article

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