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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2000-4-20
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pubmed:abstractText |
Large intergenerational repeat expansions of the CAG trinucleotide repeat in the HD gene have been well documented for the male germline. We describe a recurrent large expansion of a maternal allele with 36 CAG repeats (to 66 and 57 repeats, respectively, in two daughters) associated with onset of Huntington disease (HD) in the second and third decade in a family without history of HD. Our findings give evidence of a gonadal mosaicism in the unaffected mother. We hypothesize that large expansions also occur in the female germline and that a negative selection of oocytes with long repeats might explain the different instability behavior of the male and the female germlines.
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pubmed:commentsCorrections |
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-1531729,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-7757066,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-8054984,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-8240819,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-8252042,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-8252043,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-8366869,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-8458085,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-8541834,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-8595415,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9063751,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9153618,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9267033,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9328478,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9545416,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9778247,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9887337,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9887339,
http://linkedlifedata.com/resource/pubmed/commentcorrection/10712225-9932964
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:status |
MEDLINE
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pubmed:month |
Mar
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pubmed:issn |
0002-9297
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
66
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
1145-8
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pubmed:dateRevised |
2009-11-18
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pubmed:meshHeading |
pubmed-meshheading:10712225-Adult,
pubmed-meshheading:10712225-Age of Onset,
pubmed-meshheading:10712225-Alleles,
pubmed-meshheading:10712225-Female,
pubmed-meshheading:10712225-Genotype,
pubmed-meshheading:10712225-Humans,
pubmed-meshheading:10712225-Huntington Disease,
pubmed-meshheading:10712225-Male,
pubmed-meshheading:10712225-Middle Aged,
pubmed-meshheading:10712225-Mosaicism,
pubmed-meshheading:10712225-Mothers,
pubmed-meshheading:10712225-Ovum,
pubmed-meshheading:10712225-Pedigree,
pubmed-meshheading:10712225-Sex Characteristics,
pubmed-meshheading:10712225-Trinucleotide Repeat Expansion
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pubmed:year |
2000
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pubmed:articleTitle |
A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters.
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pubmed:affiliation |
Institute of Human Genetics, 37073 Göttingen, Germany. flaccon@gwdg. de
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pubmed:publicationType |
Journal Article
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