The repeat expansion detection method in the analysis of diseases with CAG/CTG repeat expansion: Usefulness and limitations

Human Mutation

Volumn 10, Issue 6, 1997, Pages 486-488

  Martorell, Lourdes ^a   Pujana, Miguel Angel ^b   Volpini, Victor ^b   Sanchez, Aurora ^c   Joven, Jorge ^d   Vilella, Elisabet ^a,d   Estivill, Xavier ^b,c  

^a Dept de Formacio i Investigacio   (Spain)

^b HOSPITAL DURAN I REYNALS   (Spain)

^c HOSPITAL CLÍNIC   (Spain)

^d HOSPITAL UNIVERSITARI SANT JOAN DE REUS   (Spain)

Author keywords

Huntington's disease; Machado Joseph's disease; Repeat expansion detection; Spinocerebellar ataxia type 1

Indexed keywords

ADENINE; CYTOSINE; GUANINE; THYMINE; TRINUCLEOTIDE;

ARTICLE; CEREBELLAR ATAXIA; CONTROLLED STUDY; GENE SEQUENCE; HUMAN; HUNTINGTON CHOREA; MACHADO JOSEPH DISEASE; MAJOR CLINICAL STUDY; METHODOLOGY; PRIORITY JOURNAL; TRINUCLEOTIDE REPEAT;

ATAXIA;

EID: 0030780066     PISSN: 10597794     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1098-1004(1997)10:6<486::AID-HUMU11>3.0.CO;2-W     Document Type: Article

References (7)

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7. Lindblad K, Savontaus M-L, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M (1996) An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res 6:965-971.