Literature DB >> 9350299

Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?

L A Tyfield1.   

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Year:  1997        PMID： 9350299      PMCID： PMC379622          DOI： 10.1136/mp.50.4.169

Source DB:  PubMed          Journal:  Mol Pathol        ISSN： 1366-8714


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  32 in total

1.  Mutation analysis of phenylketonuria in south Brazil.

Authors:  B Pérez; L R Desviat; M De Lucca; B Schmidt; N Loghin-Grosso; R Giugliani; R F Pires; M Ugarte
Journal:  Hum Mutat       Date:  1996       Impact factor: 4.878

2.  Sequence variation at the phenylalanine hydroxylase gene in the British Isles.

Authors:  L A Tyfield; A Stephenson; F Cockburn; A Harvie; J L Bidwell; N A Wood; D T Pilz; P Harper; I Smith
Journal:  Am J Hum Genet       Date:  1997-02       Impact factor: 11.025

3.  The PAH mutation analysis consortium database: update 1996.

Authors:  P Nowacki; S Byck; L Prevost; C R Scriver
Journal:  Nucleic Acids Res       Date:  1997-01-01       Impact factor: 16.971

4.  Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.

Authors:  S Byck; L Tyfield; K Carter; C R Scriver
Journal:  Hum Mutat       Date:  1997       Impact factor: 4.878

5.  Analysis of the phenylalanine hydroxylase gene in the Spanish population: mutation profile and association with intragenic polymorphic markers.

Authors:  B Pérez; L R Desviat; M Ugarte
Journal:  Am J Hum Genet       Date:  1997-01       Impact factor: 11.025

6.  Phenylalanine hydroxylase gene mutation R408W is present on 84% of Estonian phenylketonuria chromosomes.

Authors:  H Lilleväli; K Ounap; A Metspalu
Journal:  Eur J Hum Genet       Date:  1996       Impact factor: 4.246

Review 7.  The phenylalanine hydroxylase locus: a marker for the history of phenylketonuria and human genetic diversity. PAH Mutation Analysis Consortium.

Authors:  C R Scriver; S Byck; L Prevost; L Hoang
Journal:  Ciba Found Symp       Date:  1996

8.  Phenylketonuria mutations and their relation to RFLP haplotypes at the PAH locus in Czech PKU families.

Authors:  L Kozák; V Kuhrová; M Blazková; V Romano; L Fajkusová; D Dvoráková; A Pijácková
Journal:  Hum Genet       Date:  1995-10       Impact factor: 4.132

9.  Discordant phenylketonuria phenotypes in one family: the relationship between genotype and clinical outcome is a function of multiple effects.

Authors:  L A Tyfield; J Zschocke; A Stephenson; F Cockburn; A Harvie; J L Bidwell; N A Wood; L P Hunt
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318

10.  Phenylketonuria mutation analysis in Northern Ireland: a rapid stepwise approach.

Authors:  J Zschocke; C A Graham; D J Carson; N C Nevin
Journal:  Am J Hum Genet       Date:  1995-12       Impact factor: 11.025
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  1 in total

1.  Genetic Diversity and Balancing Selection within the Human Phenylalanine Hydroxylase (PAH) Gene Region in Iranian Population.

Authors:  A Haghighatnia; S Vallian; J Mowla; Z Fazeli
Journal:  Iran J Public Health       Date:  2012-05-31       Impact factor: 1.429
  1 in total

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