Literature DB >> 2782076

The distribution of the gene for the juvenile type of Gaucher disease in Sweden.

L Iselius1, P O Hillborg, J Lindsten.   

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 Overkalix 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 Overkalix appeared later than that in Arvidsjaur. A founder moving from Arvidsjaur to Overkalix during the seventeenth century or two different mutations are the most likely explanations of this finding.

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Year:  1989        PMID: 2782076     DOI: 10.1111/j.1651-2227.1989.tb17942.x

Source DB:  PubMed          Journal:  Acta Paediatr Scand        ISSN: 0001-656X


  3 in total

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Authors:  Frances M Platt
Journal:  Nat Rev Drug Discov       Date:  2017-11-17       Impact factor: 84.694

2.  Complex alleles of the acid beta-glucosidase gene in Gaucher disease.

Authors:  T Latham; G A Grabowski; B D Theophilus; F I Smith
Journal:  Am J Hum Genet       Date:  1990-07       Impact factor: 11.025

3.  Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies.

Authors:  N Dahl; P O Hillborg; A Olofsson
Journal:  Hum Genet       Date:  1993-11       Impact factor: 4.132

  3 in total

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