| pubmed-article:10712225 | rdf:type | pubmed:Citation | lld:pubmed |
| pubmed-article:10712225 | lifeskim:mentions | umls-concept:C0020179 | lld:lifeskim |
| pubmed-article:10712225 | lifeskim:mentions | umls-concept:C1858460 | lld:lifeskim |
| pubmed-article:10712225 | lifeskim:mentions | umls-concept:C0337514 | lld:lifeskim |
| pubmed-article:10712225 | lifeskim:mentions | umls-concept:C0015127 | lld:lifeskim |
| pubmed-article:10712225 | lifeskim:mentions | umls-concept:C1314792 | lld:lifeskim |
| pubmed-article:10712225 | lifeskim:mentions | umls-concept:C0034897 | lld:lifeskim |
| pubmed-article:10712225 | lifeskim:mentions | umls-concept:C0002085 | lld:lifeskim |
| pubmed-article:10712225 | lifeskim:mentions | umls-concept:C1705914 | lld:lifeskim |
| pubmed-article:10712225 | pubmed:issue | 3 | lld:pubmed |
| pubmed-article:10712225 | pubmed:dateCreated | 2000-4-20 | lld:pubmed |
| pubmed-article:10712225 | 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. | lld:pubmed |
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| pubmed-article:10712225 | pubmed:language | eng | lld:pubmed |
| pubmed-article:10712225 | pubmed:journal | http://linkedlifedata.com/r... | lld:pubmed |
| pubmed-article:10712225 | pubmed:citationSubset | IM | lld:pubmed |
| pubmed-article:10712225 | pubmed:status | MEDLINE | lld:pubmed |
| pubmed-article:10712225 | pubmed:month | Mar | lld:pubmed |
| pubmed-article:10712225 | pubmed:issn | 0002-9297 | lld:pubmed |
| pubmed-article:10712225 | pubmed:author | pubmed-author:ChristianWW | lld:pubmed |
| pubmed-article:10712225 | pubmed:author | pubmed-author:LacconeFF | lld:pubmed |
| pubmed-article:10712225 | pubmed:issnType | Print | lld:pubmed |
| pubmed-article:10712225 | pubmed:volume | 66 | lld:pubmed |
| pubmed-article:10712225 | pubmed:owner | NLM | lld:pubmed |
| pubmed-article:10712225 | pubmed:authorsComplete | Y | lld:pubmed |
| pubmed-article:10712225 | pubmed:pagination | 1145-8 | lld:pubmed |
| pubmed-article:10712225 | pubmed:dateRevised | 2009-11-18 | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:meshHeading | pubmed-meshheading:10712225... | lld:pubmed |
| pubmed-article:10712225 | pubmed:year | 2000 | lld:pubmed |
| pubmed-article:10712225 | pubmed:articleTitle | A recurrent expansion of a maternal allele with 36 CAG repeats causes Huntington disease in two sisters. | lld:pubmed |
| pubmed-article:10712225 | pubmed:affiliation | Institute of Human Genetics, 37073 Göttingen, Germany. flaccon@gwdg. de | lld:pubmed |
| pubmed-article:10712225 | pubmed:publicationType | Journal Article | lld:pubmed |
