SwePub
Tyck till om SwePub Sök här!
Sök i SwePub databas

  Extended search

Träfflista för sökning "WFRF:(Winblad B) srt2:(1990-1994);pers:(Theilmann J)"

Search: WFRF:(Winblad B) > (1990-1994) > Theilmann J

  • Result 1-2 of 2
Sort/group result
   
EnumerationReferenceCoverFind
1.
  • Almqvist, E, et al. (author)
  • Geographical distribution of haplotypes in Swedish families with Huntington's disease.
  • 1994
  • In: Human Genetics. - 0340-6717 .- 1432-1203. ; 94:2, s. 124-8
  • Journal article (peer-reviewed)abstract
    • This study was planned to determine the number of origins of the mutation underlying Huntington's disease (HD) in Sweden. Haplotypes were constructed for 23 different HD families, using six different polymorphisms [(CCG)n, GT70, 674, BS1, E2 and 4.2], including two within the gene. In addition, extensive genealogical investigations were performed, and the geographical origin of the haplotypes was studied. Ten different haplotypes were observed suggesting multiple origins for the HD mutation in Sweden. Analysis of the two polymorphic markers within the HD gene (the CCG repeat and GT70) indicates that there are at least three origins for the HD mutation in Sweden. One of these haplotypes (7/A) accounts for 89% of the families, suggesting that the majority of the Swedish HD families are related through a single HD mutation of ancient origin. Furthermore, three of the families that were previously considered to be unrelated could be traced to a common ancestor in the 15th century, a finding that is consistent with this hypothesis.
  •  
2.
  •  
Skapa referenser, mejla, bekava och länka
  • Result 1-2 of 2
Type of publication
journal article (2)
Type of content
peer-reviewed (2)
Author/Editor
Winblad, B (2)
Almqvist, E (2)
Hayden, M (2)
Andrew, S (2)
Theilmann, J (2)Undo refine
Goldberg, P (2)
show more...
Zeisler, J (2)
Grandell, U (2)
Tapper-Persson, M (2)
Anvret, M (1)
Drugge, U (1)
Drugge, Ulf (1)
show less...
University
Linnaeus University (1)
Marie Cederschiöld högskola (1)
Language
English (2)
Research subject (UKÄ/SCB)
Medical and Health Sciences (1)
Year
1994 (2)

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view