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Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany

  • Metabolic Diseases
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Abstract

Forty-six individuals having phenylketonuria (PKU) alleles at the phenylalanine hydroxylase (PAH) locus were tested for the haplotype 2 PKU mutation by allele-specific hybridization following in vitro DNA amplification. Patients and carriers previously shown to have a mutant haplotype 2 PAH allele demonstrated conservation of this mutation. In vitro DNA amplification greatly facilitated this analysis and provides the possibility of population screening for 37% of the mutant German PAH alleles.

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Abbreviations

HPA:

hyperphenylalaminaemia

PAH:

phenylalanine hydroxylase

PKU:

phenylketonuria

RFLP:

restriction fragment length polymorphism

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Authors and Affiliations

  1. Universitäts-Kinderklinik, Im Neuenheimer Feld 150, D-6900, Heidelberg 1, Federal Republic of Germany

    U. Lichter-Konecki, M. schlotter, F. K. Trefz & D. S. Konecki

Authors
  1. U. Lichter-Konecki
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  2. M. schlotter
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  3. F. K. Trefz
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  4. D. S. Konecki
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Lichter-Konecki, U., schlotter, M., Trefz, F.K. et al. Direct detection of a major mutation responsible for phenylketonuria in the population of the Federal Republic of Germany. Eur J Pediatr 149, 120–123 (1989). https://doi.org/10.1007/BF01995861

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  • DOI: https://doi.org/10.1007/BF01995861

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