Literature DB >> 1682234

Recurrent nonsense mutation in exon 7 of the phenylalanine hydroxylase gene.

B Dworniczak1, L Kalaydjieva, C Aulehla-Scholz, K Ullrich, I Kremensky, B Radeva, J Horst.   

Abstract

A new mutation (CGA to TGA) in codon 261 of exon 7 of the phenylalanine hydroxylase gene transforms Arg261 to a stop codon in two unrelated patients of German and Turkish origin. The different ethnic backgrounds and the different polymorphic characteristics of the two mutant alleles suggest an independent origin of the mutation. This is the second defect detected in codon 261 of the phenylalanine hydroxylase gene, a codon that thus appears to be a mutation hot spot.

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Year:  1991        PMID： 1682234     DOI： 10.1007/bf00201735

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


  15 in total

1.  Extensive restriction site polymorphism at the human phenylalanine hydroxylase locus and application in prenatal diagnosis of phenylketonuria.

Authors:  A S Lidsky; F D Ledley; A G DiLella; S C Kwok; S P Daiger; K J Robson; S L Woo
Journal:  Am J Hum Genet       Date:  1985-07       Impact factor: 11.025

2.  Nucleotide sequence of a full-length complementary DNA clone and amino acid sequence of human phenylalanine hydroxylase.

Authors:  S C Kwok; F D Ledley; A G DiLella; K J Robson; S L Woo
Journal:  Biochemistry       Date:  1985-01-29       Impact factor: 3.162

3.  Tight linkage between a splicing mutation and a specific DNA haplotype in phenylketonuria.

Authors:  A G DiLella; J Marvit; A S Lidsky; F Güttler; S L Woo
Journal:  Nature       Date:  1986 Aug 28-Sep 3       Impact factor: 49.962

4.  Phenylalanine hydroxylase gene: novel missense mutation in exon 7 causing severe phenylketonuria.

Authors:  B Dworniczak; K Grudda; J Stümper; K Bartholomé; C Aulehla-Scholz; J Horst
Journal:  Genomics       Date:  1991-01       Impact factor: 5.736

5.  Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

Authors:  B Dworniczak; C Aulehla-Scholz; J Horst
Journal:  Hum Genet       Date:  1989-12       Impact factor: 4.132

6.  Significant phenylalanine hydroxylation in vivo in patients with classical phenylketonuria.

Authors:  G N Thompson; D Halliday
Journal:  J Clin Invest       Date:  1990-07       Impact factor: 14.808

7.  Phenylketonuria mutation in Chinese haplotype 44 identical with haplotype 2 mutation in northern-European Caucasians.

Authors:  T F Tsai; K J Hsiao; T S Su
Journal:  Hum Genet       Date:  1990-04       Impact factor: 4.132

8.  Molecular genetics of PKU in eastern Europe: a nonsense mutation associated with haplotype 4 of the phenylalanine hydroxylase gene.

Authors:  T Wang; Y Okano; R C Eisensmith; G Fekete; D Schuler; G Berencsi; I Nasz; S L Woo
Journal:  Somat Cell Mol Genet       Date:  1990-01

9.  Two mutations within the coding sequence of the phenylalanine hydroxylase gene.

Authors:  E Svensson; B Andersson; L Hagenfeldt
Journal:  Hum Genet       Date:  1990-08       Impact factor: 4.132

10.  Missense mutations associated with RFLP haplotypes 1 and 4 of the human phenylalanine hydroxylase gene.

Authors:  Y Okano; T Wang; R C Eisensmith; B Steinmann; R Gitzelmann; S L Woo
Journal:  Am J Hum Genet       Date:  1990-01       Impact factor: 11.025
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  5 in total

1.  Phenylketonuria in Italy: distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene.

Authors:  V Guzzetta; G Bonapace; I Dianzani; G Parenti; M Lecora; S Giannattasio; D Concolino; P Strisciuglio; G Sebastio; G Andria
Journal:  J Inherit Metab Dis       Date:  1997-09       Impact factor: 4.982

2.  Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.

Authors:  E Kayaalp; E Treacy; P J Waters; S Byck; P Nowacki; C R Scriver
Journal:  Am J Hum Genet       Date:  1997-12       Impact factor: 11.025

3.  Multiple origins for phenylketonuria in Europe.

Authors:  R C Eisensmith; Y Okano; M Dasovich; T Wang; F Güttler; H Lou; P Guldberg; U Lichter-Konecki; D S Konecki; E Svensson
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

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

5.  Molecular-genetic causes for the high frequency of phenylketonuria in the population from the North Caucasus.

Authors:  Polina Gundorova; Rena A Zinchenko; Irina A Kuznetsova; Elena A Bliznetz; Anna A Stepanova; Aleksander V Polyakov
Journal:  PLoS One       Date:  2018-08-01       Impact factor: 3.240
  5 in total

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