SCA8 CTG repeat: En masse contractions in sperm and intergenerational sequence changes may play a role in reduced penetrance

Human Molecular Genetics

Volumn 9, Issue 14, 2000, Pages 2125-2130

  Moseley, Melinda L ^a   Schut, Lawrence J ^a,b   Bird, Thomas D ^c   Koob, Michael D ^a   Day, John W ^a   Ranum, Laura P W ^a,d  

^a UNIVERSITY OF MINNESOTA   (United States)

^b CentraCare Clinic   (United States)

^c VETERANS AFFAIRS MEDICAL CENTER   (United States)

^d MMC 206 ^*  (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CYTOSINE; GUANINE; THYMINE; TRINUCLEOTIDE;

ALLELE; ARTICLE; BLOOD SAMPLING; CEREBELLAR ATAXIA; CONTROLLED STUDY; DNA POLYMORPHISM; FAMILY STUDY; FEMALE; GENE SEQUENCE; GENE TRANSFER; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MALE; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PENETRANCE; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SPERM; SPINOCEREBELLAR TRACT; TRINUCLEOTIDE REPEAT;

ATAXIA;

EID: 0034284685     PISSN: 09646906     EISSN: None     Source Type: Journal    
DOI: 10.1093/hmg/9.14.2125     Document Type: Article

References (27)

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6. Reply
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25. The full mutation in the FMR-1 gene of male fragile X patients in absent in their sperm
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