Journal of Inherited Metabolic Disease

, Volume 17, Issue 3, pp 377–378 | Cite as

Different phenotypic manifestations associated with identical phenylketonuria genotypes in two Spanish families

  • B. Pérez
  • L. R. Desviat
  • M. J. García
  • M. Ugarte
Short Report — The PAH Gene

Keywords

Public Health Internal Medicine Phenylketonuria Phenotypic Manifestation Spanish Family 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.
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References

  1. Dasovich M, Konecki D, Lichter-Konecki U et al (1991) Molecular characterization of a PKU allele prevalent in Southern Europe and Ireland.Somat Cell Mol Genet 17: 303–309.Google Scholar
  2. Desviat LR, Pérez B, Ugarte M (1992) A new PKU mutation associated with haplotype 12.Hum Mutat 9: 765–766.Google Scholar
  3. Eisensmith RC, Woo SLC (1992) Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.Am J Hum Genet 51: 1445–1448.Google Scholar
  4. John SWM, Scriver CR, Laframboise R, Rozen R (1992)In vitro andin vivo correlations for 165T and MIV mutations at the phenylalanine hydroxylase locus.Hum Mutat 1: 147–153.Google Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1994

Authors and Affiliations

  • B. Pérez
    • 1
  • L. R. Desviat
    • 1
  • M. J. García
    • 1
  • M. Ugarte
    • 1
  1. 1.Centro de Biologia Molecular, ‘Severo Ochoa’ CSIC-UAMUniversidad Autónoma de Madrid, CantoblancoMadridSpain

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