Episodic ataxia type 2 (EA2) and spinocerebellar ataxia type 6 (SCA6) due to CAG repeat expansion in the CACNA1A gene on chromosome 19p

Human Molecular Genetics

Volumn 6, Issue 11, 1997, Pages 1973-1978

  Jodice, Carla ^a   Mantuano, Elide ^b   Veneziano, Liana ^b   Trettel, Flavia ^a   Sabbadini, Guglielmo ^b   Calandriello, Luigi ^c   Francia, Ada ^c   Spadaro, Maria ^d   Pierelli, Francesco ^d   Salvi, Fabrizio ^e   Ophoff, Roel A ^f   Frants, Rune R ^f   Frontali, Marina ^b  

^a UNIVERSITY OF ROME TOR VERGATA   (Italy)

^b CNR   (Italy)

^c SAPIENZA UNIVERSITY OF ROME   (Italy)

^d SAPIENZA UNIVERSITY OF ROME   (Italy)

^e BELLARIA HOSPITAL   (Italy)

^f LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM CHANNEL; DNA; MEMBRANE PROTEIN; PROTEIN SUBUNIT; TRINUCLEOTIDE;

ARTICLE; ATAXIA; AUTOSOMAL DOMINANT DISORDER; CEREBELLAR ATAXIA; CHROMOSOME 19P; CONTROLLED STUDY; DNA SEQUENCE; EXON; FEMALE; GENE SEGREGATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; INTRON; MALE; NYSTAGMUS; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; CALCIUM CHANNELS; CEREBELLAR ATAXIA; CHROMOSOMES, HUMAN, PAIR 19; EXONS; FEMALE; HUMANS; INTRONS; MALE; MIDDLE AGED; MUTATION; PEDIGREE; PHENOTYPE; SPINOCEREBELLAR DEGENERATIONS; TRINUCLEOTIDE REPEATS;

EID: 9844263366     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/6.11.1973     Document Type: Article

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