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Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene

  • Published:1997-09 Issue:5 Volume:20 Page:619-624
  • ISSN:0141-8955
  • Container-title:Journal of Inherited Metabolic Disease
  • language:en
  • Short-container-title:J Inherit Metab Dis

Author:

Guzzetta V.1,Bonapace G.2,Dianzani I.3,Parenti G.1,Lecora M.1,Giannattasio S.4,Concolino D.2,Strisciuglio P.2,Sebastio G.1,Andria G.1

Affiliation:

1. ; Dipartimento di Pediatria; Università Federico II; Napoli

2. ; Dipartimento di Pediatria; Università di Reggio Calabria; Italy

3. ; Dipartimento di Pediatria; Università di Torino; Italy

4. Istituto per lo Studio dei Mitocondri e del Metabolismo Energetico, CNR; Bari Italy

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference26 articles.

1. CpG dinucleotides are mutation hot spots in phenylketonuria;Abadie;Genomics,1989

2. Molecular characterization of PKU allele prevalent in southern Europe and Ireland;Dasovich;Somat Cell Mol Genet,1991

3. Genetic history of phenylketonuria mutations in Italy;Dianzani;Am J Hum Genet,1994

4. Characterization of phenylketonuria alleles in the Italian population;Dianzani;Eur J Hum Genet,1995

5. Molecular structure and polymorphic map of the human phenylalanine hydroxylase gene;Di Lella;Biochemistry,1986

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