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Epidemiology of alpha 1 anti trypsin deficiency in the netherlands


, : Epidemiology of alpha 1 anti trypsin deficiency in the netherlands. Human Genetics 53(3): 409-414

During a 3 yr period, newborns in the eastern part of the Netherlands were investigated for.alpha.1-antitrypsin deficiency. Electroimmunoassay was used for screening, followed by Pi typing in suspected cases. In all, 95,033 newborns were screened, and a mean frequency of deficiency (phenotypes PiZ, PiSZ and PiS) of 8.00 in 10,000 was found. The distribution of deficient Pi types over the area was remarkably uneven, Pi type Z being more predominant north and Pi type S south of the Rhine.

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