((swepub) lar1:(umu)) srt2:(2000-2009)
Search: ((swepub) lar1:(umu)) srt2:(2000-2009) > (2000) > Evidence for a comm...
- 4 of 857
- Previous record
- Next record
- To hitlist
- Jonasson, JenniKarolinska Institutet,Umeå universitet,Medicinsk och klinisk genetik (author)
Evidence for a common Spinocerebellar ataxia type 7 (SCA7) founder mutation in Scandinavia
- Article/chapterEnglish2000
Publisher, publication year, extent ...
- 2000-12-20
- Springer Science and Business Media LLC,2000
- printrdacarrier
Numbers
- LIBRIS-ID:oai:DiVA.org:umu-3582
- https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-3582URI
- https://doi.org/10.1038/sj.ejhg.5200557DOI
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-56139URI
- http://kipublications.ki.se/Default.aspx?queryparsed=id:1943088URI
Supplementary language notes
- Language:English
- Summary in:English
Part of subdatabase
- SwePubSwePub
Classification
Notes
- Spinocerebellar ataxia type 7 (SCA7) is a neuro-degenerative disorder characterised by progressive cerebellar ataxia and macular degeneration. SCA7 is one of the least common genetically verified autosomal dominant cerebellar ataxias (ADCAs) in the world (4.5 to 11.6%), but in Sweden and Finland SCA7 is the most commonly identified form of ADCA. In an inventory of hereditary ataxias in Scandinavia (Sweden, Norway, Denmark and Finland) we identified 15 SCA7 families, eight in Sweden and seven in Finland, while no cases of SCA7 could be found in Norway or Denmark. We examined whether the relatively high frequency of SCA7 families in Sweden and Finland was the result of a common founder effect. Only two out of 15 families could be connected genealogically. However, an extensive haplotype analysis over a 10.2 cM region surrounding the SCAI gene locus showed that all 15 families studied shared a common haplotype over at least 1.9 cM. This strongly suggests that all Scandinavian SCA7 families originate from a common founder pre-mutation.
Subject headings and genre
- MEDICIN OCH HÄLSOVETENSKAP Medicinska och farmaceutiska grundvetenskaper Medicinsk genetik hsv//swe
- MEDICAL AND HEALTH SCIENCES Basic Medicine Medical Genetics hsv//eng
- MEDICIN OCH HÄLSOVETENSKAP Medicinsk bioteknologi Medicinsk bioteknologi hsv//swe
- MEDICAL AND HEALTH SCIENCES Medical Biotechnology Medical Biotechnology hsv//eng
- spinocerebellar ataxia
- SCA7
- founder effect
- haplotype analysis
- linkage disequilibrium
- Scandinavia
Added entries (persons, corporate bodies, meetings, titles ...)
- Juvonen, Vesa (author)
- Sistonen, Pertti (author)
- Ignatius, Jaakko (author)
- Johansson, Daniel (author)
- Björk, Erik (author)
- Wahlström, Jan (author)
- Melberg, AtleUppsala universitet,Institutionen för neurovetenskap (author)
- Holmgren, Gösta (author)
- Forsgren, Lars (author)
- Holmberg, Monica (author)
- Umeå universitetMedicinsk och klinisk genetik (creator_code:org_t)
Related titles
- In:European Journal of Human Genetics: Springer Science and Business Media LLC8, s. 918-1018-48131476-5438
- In:Eur J Human Genetics: Springer Science and Business Media LLC8, s. 918-
Internet link
- http://www.nature.com/ejhg/journal/v8/n12/pdf/5200557a.pdf
- https://www.nature.com/articles/5200557.pdf
- https://urn.kb.se/resolve?urn=urn:nbn:se:umu:diva-3582
- https://doi.org/10.1038/sj.ejhg.5200557
- https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-56139
- http://kipublications.ki.se/Default.aspx?queryparsed=id:1943088
Find in a library
- European Journal of Human Genetics (Search for host publication in LIBRIS)
To the university's database
- 4 of 857
- Previous record
- Next record
- To hitlist
Find more in SwePub
- By the author/editor
- Jonasson, Jenni
- Juvonen, Vesa
- Sistonen, Pertti
- Ignatius, Jaakko
- Johansson, Danie ...
- Björk, Erik
- show more...
- Wahlström, Jan
- Melberg, Atle
- Holmgren, Gösta
- Forsgren, Lars
- Holmberg, Monica
- show less...
- About the subject
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Basic Medicine
- and Medical Genetics
-
- MEDICAL AND HEALTH SCIENCES
- MEDICAL AND HEAL ...
- and Medical Biotechn ...
- and Medical Biotechn ...
- Articles in the publication
- European Journal ...
- Eur J Human Gene ...
- By the university
- Umeå University
- Uppsala University
- Karolinska Institutet
Search outside SwePub
- Extend your search to:
- Google Book Search
- Google Scholar
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.
- Copyright © LIBRIS - National Library Systems
- LIBRIS.kb.se
