Literature DB >> 7959699

Preliminary mutation analysis in the phenylalanine hydroxylase gene in Greek PKU and HPA patients.

J Traeger-Synodinos1, E Kanavakis, M Kalogerakou, K Soulpi, S Missiou-Tsangaraki, C Kattamis.   

Abstract

The presence of nine mutations in the phenylalanine hydroxylase (PAH) gene, previously described in phenylketonuria (PKU) patients of other Mediterranean and European populations, was assessed in 47 Greek PKU and 3 hyperphenylalaninaemia (HPA) patients. Of the nine mutations investigated, only five were detected, characterizing 31% of the PKU alleles in our patients.

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Year:  1994        PMID： 7959699     DOI： 10.1007/BF00211031

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  21 in total

1.  Phenylalaninaemia. Differential diagnosis.

Authors:  M E Blaskovics; G E Schaeffler; S Hack
Journal:  Arch Dis Child       Date:  1974-11       Impact factor: 3.791

2.  Guthrie cards for detection of point mutations in phenylketonuria.

Authors:  S Lyonnet; C Caillaud; F Rey; M Berthelon; J Frezal; J Rey; A Munnich
Journal:  Lancet       Date:  1988-08-27       Impact factor: 79.321

3.  Phenylketonuria missense mutations in the Mediterranean.

Authors:  Y Okano; T Wang; R C Eisensmith; R Longhi; E Riva; M Giovannini; R Cerone; C Romano; S L Woo
Journal:  Genomics       Date:  1991-01       Impact factor: 5.736

4.  A prevalent missense mutation in Northern Europe associated with hyperphenylalaninaemia.

Authors:  Y Okano; R C Eisensmith; M Dasovich; T Wang; F Güttler; S L Woo
Journal:  Eur J Pediatr       Date:  1991-03       Impact factor: 3.183

5.  Molecular characterization of PKU allele prevalent in southern Europe and Ireland.

Authors:  M Dasovich; D Konecki; U Lichter-Konecki; R C Eisensmith; F Güttler; E Naughton; C Mullins; M Giovannini; E Riva; S L Woo
Journal:  Somat Cell Mol Genet       Date:  1991-05

6.  Mutation analysis of phenylketonuria in Spain: prevalence of two Mediterranean mutations.

Authors:  B Pérez; L R Desviat; M Die; M Ugarte
Journal:  Hum Genet       Date:  1992-05       Impact factor: 4.132

7.  Mutation analysis in Turkish phenylketonuria patients.

Authors:  M Ozgüç; I Ozalp; T Coşkun; E Yilmaz; H Erdem; S Ayter
Journal:  J Med Genet       Date:  1993-02       Impact factor: 6.318

Review 8.  Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.

Authors:  R C Eisensmith; S L Woo
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

9.  Mutational spectrum of phenylalanine hydroxylase deficiency in Sicily: implications for diagnosis of hyperphenylalaninemia in southern Europe.

Authors:  P Guldberg; V Romano; N Ceratto; P Bosco; M Ciuna; A Indelicato; F Mollica; C Meli; M Giovannini; E Riva
Journal:  Hum Mol Genet       Date:  1993-10       Impact factor: 6.150

10.  PKU mutations R408Q and F299C in Norway: haplotype associations, geographic distributions and phenotype characteristics.

Authors:  H G Eiken; K Stangeland; L Skjelkvåle; P M Knappskog; H Boman; J Apold
Journal:  Hum Genet       Date:  1992-03       Impact factor: 4.132
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  4 in total

1.  Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal.

Authors:  I Rivera; P Leandro; U Lichter-Konecki; I Tavares de Almeida; M C Lechner
Journal:  J Med Genet       Date:  1998-04       Impact factor: 6.318

2.  Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations.

Authors:  L Kozák; M Blazková; V Kuhrová; A Pijácková; S Růzicková; S St'astná
Journal:  J Med Genet       Date:  1997-11       Impact factor: 6.318

3.  Spectrum of PAH gene mutations in 1547 phenylketonuria patients from Iran: a comprehensive systematic review.

Authors:  Reza Alibakhshi; Aboozar Mohammadi; Nader Salari; Sahand Khamooshian; Mohsen Kazeminia; Keivan Moradi
Journal:  Metab Brain Dis       Date:  2021-02-24       Impact factor: 3.584

4.  Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.

Authors:  Filipa Ferreira; Luísa Azevedo; Raquel Neiva; Carmen Sousa; Helena Fonseca; Ana Marcão; Hugo Rocha; Célia Carmona; Sónia Ramos; Anabela Bandeira; Esmeralda Martins; Teresa Campos; Esmeralda Rodrigues; Paula Garcia; Luísa Diogo; Ana Cristina Ferreira; Silvia Sequeira; Francisco Silva; Luísa Rodrigues; Ana Gaspar; Patrícia Janeiro; António Amorim; Laura Vilarinho
Journal:  Mol Genet Genomic Med       Date:  2021-01-19       Impact factor: 2.183
  4 in total

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