Sökning: onr:"swepub:oai:DiVA.org:uu-169831" >
Prospects of carrie...
Prospects of carrier screening of aspartylglucosaminuria in Finland
-
Hietala, M (författare)
-
Grön, K (författare)
-
Syvänen, Ann-Christine (författare)
-
visa fler...
-
Peltonen, L (författare)
-
Aula, P (författare)
-
visa färre...
- 1993
- 1993
- Engelska.
-
Ingår i: European Journal of Human Genetics. - 1018-4813 .- 1476-5438. ; 1:4, s. 296-300
- Relaterad länk:
-
https://urn.kb.se/re...
Abstract
Ämnesord
Stäng
- 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.
Publikations- och innehållstyp
- ref (ämneskategori)
- art (ämneskategori)
Hitta via bibliotek
Till lärosätets databas