Mutation detection in Machado-Joseph disease using repeat expansion detection

Molecular Medicine

Volumn 2, Issue 1, 1996, Pages 77-85

  Lindblad, Kerstin ^a   Lunkes, Astrid ^b   Maciel, Patricia ^c,d   Stevanin, Giovanni ^e   Zander, Cecilia ^a   Klockgether, Thomas ^f   Ratzlaff, Tim ^b   Brice, Alexis ^e   Rouleau, Guy A ^c   Hudson, Tom ^g   Auburger, Georg ^b   Schalling, Martin ^a  

^a KAROLINSKA UNIVERSITY HOSPITAL   (Sweden)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c MONTREAL GENERAL HOSPITAL   (Canada)

^d UNIVERSITY OF PORTO   (Portugal)

^e PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

^f UNIVERSITY HOSPITAL TÜBINGEN   (Germany)

^g WHITEHEAD INSTITUTE FOR BIOMEDICAL RESEARCH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

LIGASE; REPETITIVE DNA;

ARTICLE; CEREBELLAR ATAXIA; CHROMOSOME 14; CONTROLLED STUDY; DNA FLANKING REGION; FEMALE; GENE LOCUS; GENE MUTATION; GENETIC LINKAGE; HUMAN; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; MALE; ONSET AGE; PEDIGREE; PHENOTYPE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

EID: 0029669181     PISSN: 10761551     EISSN: None     Source Type: Journal    
DOI: 10.1007/bf03402204     Document Type: Article

References (12)

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2. Silveira I, et al. (1996) Frequency of spino-cerebellar ataxia type 1, dentatorubralpallidoluysian atrophy and Machado-Joseph disease mutations in a large group of spino-cerebellar ataxia patients. Neurology 4(1).
3. Takiyama Y, et al. (1993) The gene for Machado-Joseph disease maps to human chromosome 14q. Nat. Genet. 4: 300-304.
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11. Schalling M. (1992) In: Conn PM (ed). Gene Expression in Neural Tissues. Academic Press, New York, pp. 231-255.
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