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Search: (WFRF:(Hietala P.)) > (1990-1994)

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  • Hietala, M, et al. (author)
  • Prospects of carrier screening of aspartylglucosaminuria in Finland
  • 1993
  • In: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 1:4, s. 296-300
  • Journal article (peer-reviewed)abstract
    • 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.
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Type of publication
journal article (1)
Type of content
peer-reviewed (1)
Author/Editor
Syvänen, Ann-Christi ... (1)
Hietala, M (1)
Peltonen, L (1)
Aula, P (1)
Grön, K (1)
University
Uppsala University (1)
Language
English (1)
Year
1993 (1)

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