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High frequency of i...
High frequency of intermediary alleles in the HTT gene in Northern Sweden - The Swedish Huntingtin Alleles and Phenotype (SHAPE) study
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- Sundblom, Jimmy, 1981- (författare)
- Uppsala universitet,Enblad: Neurokirurgi
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- Niemelä, Valter (författare)
- Uppsala universitet,Landtblom: Neurovetenskap
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- Ghazarian, Maria (författare)
- Uppsala universitet,Landtblom: Neurovetenskap
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- Strand, Ann-Sofi (författare)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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- Bergdahl, Ingvar (författare)
- Umeå universitet,Enheten för biobanksforskning,Arcum,Umeå Univ, Biobank Res Unit, Umeå, Sweden
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- Jansson, Jan-Håkan (författare)
- Umeå universitet,Avdelningen för medicin,Umeå Univ, Dept Publ Hlth & Clin Med, Res Unit Skellefteå, Umeå, Sweden
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- Söderberg, Stefan (författare)
- Umeå universitet,Kardiologi,Umeå Univ, Dept Publ Hlth & Clin Med, Heart Ctr, Umeå, Sweden
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- Stattin, Eva-Lena (författare)
- Uppsala universitet,Medicinsk genetik och genomik,Science for Life Laboratory, SciLifeLab
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(creator_code:org_t)
- 2020-06-17
- 2020
- Engelska.
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Ingår i: Scientific Reports. - : Nature Publishing Group. - 2045-2322. ; 10:1
- Relaterad länk:
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https://doi.org/10.1...
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https://umu.diva-por... (primary) (Raw object)
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https://www.nature.c...
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https://uu.diva-port... (primary) (Raw object)
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https://urn.kb.se/re...
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https://doi.org/10.1...
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https://urn.kb.se/re...
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Abstract
Ämnesord
Stäng
- Trinucleotide (CAG) repeat expansions longer than 39 in the huntingtin (HTT) gene cause Huntington's disease (HD). The frequency of intermediate alleles (IA) with a length of 27-35 in the general population is not fully known, but studied in specific materials connected to the incidence of HD. The Swedish Huntingtin Alleles and Phenotype (SHAPE) study aims to assess the frequency of trinucleotide repeat expansions in the HTT gene in north Sweden. 8260 individuals unselected for HD from the counties of Norr- and Vasterbotten in the north of Sweden were included. DNA samples were obtained and analysis of the HTT gene was performed, yielding data on HTT gene expansion length in 7379 individuals. A high frequency of intermediate alleles, 6.8%, was seen. Also, individuals with repeat numbers lower than ever previously reported (<5) were found. These results suggest a high frequency of HD in the norther parts of Sweden. Subsequent analyses may elucidate the influence of IA:s on traits other than HD.
Ämnesord
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Neurovetenskaper (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Neurosciences (hsv//eng)
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
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