rdf:type |
|
lifeskim:mentions |
|
pubmed:issue |
12
|
pubmed:dateCreated |
2005-11-7
|
pubmed:abstractText |
We have assessed the haplotypes at the ATXN2 locus in Taiwanese controls and in individuals with SCA2 ataxia with both ataxic and parkinsonian features. Our intention was to determine whether a different ataxin 2 haplotypes predisposed to the two phenotypes. In fact, our analysis showed that all SCA2 mutations carriers had the same ataxin 2 haplotype: haplotype B, which accounts for only 15% of control haplotypes, implying that there is a common founder for all Taiwanese SCA2 patients.
|
pubmed:language |
eng
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pubmed:journal |
|
pubmed:citationSubset |
IM
|
pubmed:chemical |
|
pubmed:status |
MEDLINE
|
pubmed:month |
Dec
|
pubmed:issn |
0885-3185
|
pubmed:author |
|
pubmed:issnType |
Print
|
pubmed:volume |
20
|
pubmed:owner |
NLM
|
pubmed:authorsComplete |
Y
|
pubmed:pagination |
1633-6
|
pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:16078202-Adult,
pubmed-meshheading:16078202-Aged,
pubmed-meshheading:16078202-Ataxia,
pubmed-meshheading:16078202-DNA Mutational Analysis,
pubmed-meshheading:16078202-Female,
pubmed-meshheading:16078202-Gene Frequency,
pubmed-meshheading:16078202-Genetic Predisposition to Disease,
pubmed-meshheading:16078202-Haplotypes,
pubmed-meshheading:16078202-Humans,
pubmed-meshheading:16078202-Male,
pubmed-meshheading:16078202-Middle Aged,
pubmed-meshheading:16078202-Nerve Tissue Proteins,
pubmed-meshheading:16078202-Parkinson Disease,
pubmed-meshheading:16078202-Polymorphism, Single Nucleotide,
pubmed-meshheading:16078202-Taiwan
|
pubmed:year |
2005
|
pubmed:articleTitle |
Taiwanese cases of SCA2 are derived from a single founder.
|
pubmed:affiliation |
Laboratory of Neurogenetics, National Institute on Aging, National Institutes of Health, Bethesda, Maryland 20952, USA. momeni@mail.nih.gov
|
pubmed:publicationType |
Journal Article,
Comparative Study,
Research Support, Non-U.S. Gov't
|