Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.
Aspartylglucosaminuria (AGU, McKusick 208400) is an autosomal recessive lysosomal storage disorder. Ninety percent of all patients are from Finland and only sporadic cases have been reported from elsewhere. In northern Norway, however, nine patients from seven families have been diagnosed with AGU....
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ftpubmed:oai:pubmedcentral.nih.gov:1049865 2023-05-15T17:42:27+02:00 Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. Tollersrud, O K Nilssen, O Tranebjaerg, L Borud, O 1994-05 http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049865 http://www.ncbi.nlm.nih.gov/pubmed/8064811 en eng http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049865 http://www.ncbi.nlm.nih.gov/pubmed/8064811 Research Article Text 1994 ftpubmed 2013-08-30T06:57:24Z Aspartylglucosaminuria (AGU, McKusick 208400) is an autosomal recessive lysosomal storage disorder. Ninety percent of all patients are from Finland and only sporadic cases have been reported from elsewhere. In northern Norway, however, nine patients from seven families have been diagnosed with AGU. All these Norwegian patients were homozygous for the most prevalent Finnish AGU mutation (AGUFin) and show the polymorphism uniquely associated with AGUFin in Finland. Genealogical investigation of nine parents proved Finnish ancestry in all pedigrees. Therefore, AGU in Norway most likely resulted from immigration of Finnish carriers. These Finnish immigrants originated mostly from the Tornio valley area in northern Finland in a continuous immigration movement from 1700 to 1900. The majority settled in the western part of northern Norway, leading to a "cluster" of AGU in that particular area. The Finnish immigrants intermixed considerably with Lapps and these two ethnic origins should thus be considered as high risk groups for AGUFin in northern Norway. Text Northern Finland Northern Norway PubMed Central (PMC) Norway Tornio ENVELOPE(24.147,24.147,65.848,65.848) |
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English |
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Research Article Tollersrud, O K Nilssen, O Tranebjaerg, L Borud, O Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
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Research Article |
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Aspartylglucosaminuria (AGU, McKusick 208400) is an autosomal recessive lysosomal storage disorder. Ninety percent of all patients are from Finland and only sporadic cases have been reported from elsewhere. In northern Norway, however, nine patients from seven families have been diagnosed with AGU. All these Norwegian patients were homozygous for the most prevalent Finnish AGU mutation (AGUFin) and show the polymorphism uniquely associated with AGUFin in Finland. Genealogical investigation of nine parents proved Finnish ancestry in all pedigrees. Therefore, AGU in Norway most likely resulted from immigration of Finnish carriers. These Finnish immigrants originated mostly from the Tornio valley area in northern Finland in a continuous immigration movement from 1700 to 1900. The majority settled in the western part of northern Norway, leading to a "cluster" of AGU in that particular area. The Finnish immigrants intermixed considerably with Lapps and these two ethnic origins should thus be considered as high risk groups for AGUFin in northern Norway. |
format |
Text |
author |
Tollersrud, O K Nilssen, O Tranebjaerg, L Borud, O |
author_facet |
Tollersrud, O K Nilssen, O Tranebjaerg, L Borud, O |
author_sort |
Tollersrud, O K |
title |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_short |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_full |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_fullStr |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_full_unstemmed |
Aspartylglucosaminuria in northern Norway: a molecular and genealogical study. |
title_sort |
aspartylglucosaminuria in northern norway: a molecular and genealogical study. |
publishDate |
1994 |
url |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049865 http://www.ncbi.nlm.nih.gov/pubmed/8064811 |
long_lat |
ENVELOPE(24.147,24.147,65.848,65.848) |
geographic |
Norway Tornio |
geographic_facet |
Norway Tornio |
genre |
Northern Finland Northern Norway |
genre_facet |
Northern Finland Northern Norway |
op_relation |
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1049865 http://www.ncbi.nlm.nih.gov/pubmed/8064811 |
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1766144315520712704 |