Novel splice site CACNA1A mutation causing episodic ataxia type 2

Neurogenetics

Volumn 5, Issue 1, 2004, Pages 69-73

  Kaunisto, M A ^a   Harno, H ^b   Kallela, M ^b   Somer, H ^b   Sallinen, R ^a   Hamalainen E ^a,b   Miettinen, P J ^b,c   Vesa, J ^d   Orpana, A ^a,b   Palotie, A ^a,b,d   Farkkila M ^b   Wessman, M ^a,e,f  

^a UNIVERSITY OF HELSINKI   (Finland)

^b HELSINKI UNIVERSITY CENTRAL HOSPITAL   (Finland)

^c UNIVERSITY OF HELSINKI   (Finland)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Folhälsan Research Center   (Finland)

^f BIOMEDICUM HELSINKI   (Finland)

Author keywords

Alpha 1A subunit; Ataxia; Chromosome 19; DNA sequence analysis; P Q type; RNA splice sites; Voltage dependent calcium channel

Indexed keywords

VOLTAGE GATED CALCIUM CHANNEL;

ADOLESCENT; ARTICLE; ATAXIA; CACNA1A GENE; CARBOXY TERMINAL SEQUENCE; CHILD; CHROMOSOME 19; CLINICAL ARTICLE; CONTROLLED STUDY; DNA SEQUENCE; EPISODIC ATAXIA TYPE 2; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC LINKAGE; HUMAN; MALE; NEUROPATHOLOGY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; RNA SPLICING; SCORING SYSTEM; SEQUENCE ANALYSIS;

ADOLESCENT; ADULT; CALCIUM CHANNELS; CEREBELLAR ATAXIA; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 19; FEMALE; HUMANS; INTRONS; LOD SCORE; MALE; PEDIGREE; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN STRUCTURE, TERTIARY; RNA SPLICE SITES;

ATAXIA;

EID: 10744233749     PISSN: 13646745     EISSN: None     Source Type: Journal    
DOI: 10.1007/s10048-003-0161-0     Document Type: Article

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