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Prospects of carrier screening of aspartylglucosaminuria in Finland
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1993 (English)In: European Journal of Human Genetics, ISSN 1018-4813, E-ISSN 1476-5438, Vol. 1, no 4, 296-300 p.Article in journal (Refereed) Published
Abstract [en]

The frequency of carriers of the AGUFin mutation, the predominant mutation causing aspartylglucosaminuria in Finland, was determined in a population sample comprising 553 newborns from a delivery hospital in southern Finland, and 607 from a hospital in northern Finland. The AGUFin point mutation was identified from cord blood samples using the PCR-based, solid-phase minisequencing method. Nineteen carriers of the AGUFin mutation were detected, 8 (1:69) in the sample from the southern and 11 (1:55) from the northern population, respectively. The solid-phase minisequencing method proved to be rapid and convenient for the detection of the AGUFin mutation, and can readily be applied in large-scale carrier screening at the population level.

Place, publisher, year, edition, pages
1993. Vol. 1, no 4, 296-300 p.
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Medical and Health Sciences
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URN: urn:nbn:se:uu:diva-169831PubMedID: 8081942OAI: oai:DiVA.org:uu-169831DiVA: diva2:507801
Available from: 2012-03-06 Created: 2012-03-06 Last updated: 2017-12-07Bibliographically approved

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Syvänen, Ann-Christine

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