The Distribution of the Gene for the Juvenile Type of Gaucher Disease in Sweden

ABSTRACT. A study of 30 Swedish families with the Norrbottnian type of Gaucher disease provides evidence for two clusters of the gene, one close to Överkalix in the northern part of the county of Norrbotten and the other in the vicinity of Arvidsjaur in the southern part of the same county. The gene...

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Bibliographic Details
Published in:Acta Paediatrica
Main Authors: ISELIUS, L., HILLBORG, P.‐O., LINDSTEN, J.
Format: Article in Journal/Newspaper
Language:English
Published: Wiley 1989
Subjects:
General Medicine
Pediatrics, Perinatology and Child Health
Arvidsjaur
Överkalix
Norrbotten
Online Access:http://dx.doi.org/10.1111/j.1651-2227.1989.tb17942.x
https://api.wiley.com/onlinelibrary/tdm/v1/articles/10.1111%2Fj.1651-2227.1989.tb17942.x
https://onlinelibrary.wiley.com/doi/pdf/10.1111/j.1651-2227.1989.tb17942.x
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Summary:ABSTRACT. A study of 30 Swedish families with the Norrbottnian type of Gaucher disease provides evidence for two clusters of the gene, one close to Överkalix in the northern part of the county of Norrbotten and the other in the vicinity of Arvidsjaur in the southern part of the same county. The gene for Gaucher disease in Överkalix appeared later than that in Arvidsjaur. A founder moving from Arvidsjaur to Överkalix during the seventeenth century or two different mutations are the most likely explanations of this finding.

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