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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
2
|
| pubmed:dateCreated |
1997-3-26
|
| pubmed:abstractText |
Spinocerebellar ataxia type 1 and type 3 (SCA1, SCA3) are autosomal dominant neurodegenerative disorders caused by expanded CAG trinucleotide repeats in novel genes. In our collective of SCA1 and SCA3 families, we observed distortion of the Mendelian 1:1 segregation of the disease. The mutated alleles were preferentially transmitted by female carriers in SCA3, whereas a gender effect on clinical features such as age of onset was not obvious. The mechanism underlying segregation distortion remains to be established.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:status |
MEDLINE
|
| pubmed:month |
Feb
|
| pubmed:issn |
0340-6717
|
| pubmed:author | |
| pubmed:issnType |
Print
|
| pubmed:volume |
99
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
|
| pubmed:pagination |
282-4
|
| pubmed:dateRevised |
2006-11-15
|
| pubmed:meshHeading |
pubmed-meshheading:9048937-Age of Onset,
pubmed-meshheading:9048937-Alleles,
pubmed-meshheading:9048937-Female,
pubmed-meshheading:9048937-Heterozygote,
pubmed-meshheading:9048937-Humans,
pubmed-meshheading:9048937-Machado-Joseph Disease,
pubmed-meshheading:9048937-Male,
pubmed-meshheading:9048937-Mutation,
pubmed-meshheading:9048937-Sex Characteristics,
pubmed-meshheading:9048937-Spinocerebellar Degenerations
|
| pubmed:year |
1997
|
| pubmed:articleTitle |
Transmission distortion of the mutant alleles in spinocerebellar ataxia.
|
| pubmed:affiliation |
St. Josef Hospital, Ruhr University, Bochum, Germany.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|