Literature DB >> 2606484

Phenylketonuria: detection of a frequent haplotype 4 allele mutation.

B Dworniczak1, C Aulehla-Scholz, J Horst.   

Abstract

By sequence analysis of 94 phenylketonuria (PKU) alleles using polymerase chain reaction (PCR) based techniques, we identified a G to A transition in exon 5 of the human phenylalanine hydroxylase gene. This base substitution predicts an Arg158----Glu158 amino acid exchange and is strongly associated with the mutant haplotype 4 PKU allele.

Entities:  

Mesh：

Substances：

Year:  1989        PMID： 2606484     DOI： 10.1007/bf00210683

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


  6 in total

1.  Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase.

Authors:  R K Saiki; D H Gelfand; S Stoffel; S J Scharf; R Higuchi; G T Horn; K B Mullis; H A Erlich
Journal:  Science       Date:  1988-01-29       Impact factor: 47.728

2.  A beta-thalassemia gene caused by a 290-base pair deletion: analysis by direct sequencing of enzymatically amplified DNA.

Authors:  R Spiegelberg; C Aulehla-Scholz; H Erlich; J Horst
Journal:  Blood       Date:  1989-05-01       Impact factor: 22.113

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.  Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency.

Authors:  S Lyonnet; C Caillaud; F Rey; M Berthelon; J Frézal; J Rey; A Munnich
Journal:  Am J Hum Genet       Date:  1989-04       Impact factor: 11.025

5.  An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.

Authors:  A G DiLella; J Marvit; K Brayton; S L Woo
Journal:  Nature       Date:  1987 May 28-Jun 3       Impact factor: 49.962

6.  Phenylketonuria: distribution of DNA diagnostic patterns in German families.

Authors:  C Aulehla-Scholz; M Vorgerd; E Sautter; D Leupold; R Mahlmann; K Ullrich; K Olek; J Horst
Journal:  Hum Genet       Date:  1988-04       Impact factor: 4.132
  6 in total
  23 in total

1.  Non-isotopic detection of single strand conformation polymorphism (PCR-SSCP): a rapid and sensitive technique in diagnosis of phenylketonuria.

Authors:  B Dockhorn-Dworniczak; B Dworniczak; L Brömmelkamp; J Bülles; J Horst; W W Böcker
Journal:  Nucleic Acids Res       Date:  1991-05-11       Impact factor: 16.971

2.  Single-strand conformation polymorphism for detection of mutations and base substitutions in phenylketonuria.

Authors:  P Labrune; D Melle; F Rey; M Berthelon; C Caillaud; J Rey; A Munnich; S Lyonnet
Journal:  Am J Hum Genet       Date:  1991-06       Impact factor: 11.025

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

Authors:  B Dworniczak; L Kalaydjieva; C Aulehla-Scholz; K Ullrich; I Kremensky; B Radeva; J Horst
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

4.  Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.

Authors:  L A Tyfield; M J Osborn; J B Holton
Journal:  J Med Genet       Date:  1991-04       Impact factor: 6.318

5.  A frameshift mutation in exon 2 of the phenylalanine hydroxylase gene linked to RFLP haplotype 1.

Authors:  A Eigel; B Dworniczak; L Kalaydjieva; J Horst
Journal:  Hum Genet       Date:  1991-10       Impact factor: 4.132

6.  Phenylketonuria in Poland: 66% of PKU alleles are caused by three mutations.

Authors:  M Zygulska; A Eigel; B Dworniczak; A Sutkowska; J J Pietrzyk; J Horst
Journal:  Hum Genet       Date:  1991-11       Impact factor: 4.132

Review 7.  The phenylketonuria locus: current knowledge about alleles and mutations of the phenylalanine hydroxylase gene in various populations.

Authors:  D S Konecki; U Lichter-Konecki
Journal:  Hum Genet       Date:  1991-08       Impact factor: 4.132

8.  Comparison of genotype and intellectual phenotype in untreated PKU patients.

Authors:  S J Ramus; S M Forrest; D B Pitt; J A Saleeba; R G Cotton
Journal:  J Med Genet       Date:  1993-05       Impact factor: 6.318

9.  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

10.  Genetic background of clinical homogeneity of phenylketonuria in Poland.

Authors:  J Jaruzelska; R Matuszak; S Lyonnet; F Rey; J Rey; J Filipowicz; K Borski; A Munnich
Journal:  J Med Genet       Date:  1993-03       Impact factor: 6.318
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.