Analysis of the dynamic mutation in the SCA7 gene shows marked parental effects on CAG repeat transmission

Human Molecular Genetics

Volumn 7, Issue 3, 1998, Pages 525-532

  Gouw, Launce G ^a   Castañeda, Marco A ^c   McKenna, Catherine K ^a,b   Digre, Kathleen B ^a   Pulst, Stefan M ^d   Perlman, Susan ^d   Lee, M S ^e   Gomez, Christopher ^f   Fischbeck, Kenneth ^g   Gagnon, Deborah ^h   Storey, Eisdon ⁱ   Bird, Thomas ^j   Jeri, F Raul ^c   Ptácek, Louis J ^a,b  

^a UNIVERSITY OF UTAH SCHOOL OF MEDICINE   (United States)

^b HOWARD HUGHES MEDICAL INSTITUTE   (United States)

^c HOSPITAL NACIONAL DOS DE MAYO   (Peru)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e Yonsei University College of Medicine   (South Korea)

^f UNIVERSITY OF MINNESOTA   (United States)

^g UNIVERSITY OF PENNSYLVANIA   (United States)

^h UNIVERSITY OF ILLINOIS AT CHICAGO   (United States)

ⁱ ROYAL CHILDREN'S HOSPITAL   (Australia)

^j VETERANS AFFAIRS MEDICAL CENTER   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CEREBELLAR ATAXIA; DISEASE SEVERITY; GENE MUTATION; HAPLOTYPE; HUMAN; MAJOR CLINICAL STUDY; MOSAICISM; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION; TRINUCLEOTIDE REPEAT;

ADOLESCENT; ADULT; AGE OF ONSET; ALLELES; ANALYSIS OF VARIANCE; BASE SEQUENCE; CHILD; CHILD, PRESCHOOL; DISEASE PROGRESSION; DNA PRIMERS; FEMALE; GENOMIC IMPRINTING; HUMANS; MALE; MIDDLE AGED; NERVE TISSUE PROTEINS; PEDIGREE; POLYMERASE CHAIN REACTION; PROTEIN BIOSYNTHESIS; REFERENCE VALUES; REGRESSION ANALYSIS; SPINOCEREBELLAR DEGENERATIONS; TRANSCRIPTION, GENETIC; TRINUCLEOTIDE REPEATS;

EID: 6844252925     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/7.3.525     Document Type: Article

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