DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.

@article{Hietala1996DNAbasedCS,
  title={DNA-based carrier screening in primary healthcare: screening for aspartylglucosaminuria mutations in maternity health offices.},
  author={Marja H Hietala and Pertti Aula and Ann Christine Syv{\"a}nen and A Isoniemi and L. Peltonen and Aarno V Palotie},
  journal={Clinical chemistry},
  year={1996},
  volume={42 9},
  pages={1398-404}
}
Large-scale genetic screening programs are complex enterprises in which ethical, technical, medical, and socioeconomic aspects have to be handled with professional expertise. Establishment of automated, relatively robust, and inexpensive laboratory techniques is one step of this path. Here a pilot carrier-screening program for the mutations causing aspartylglucosaminuria was carried out for pregnant women in primary care maternity health offices. Women (1975) were tested before their 12th week… CONTINUE READING

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