Literature DB >> 8445616

Mutation analysis in Turkish phenylketonuria patients.

M Ozgüç1, I Ozalp, T Coşkun, E Yilmaz, H Erdem, S Ayter.   

Abstract

Forty-four classical PKU patients have been screened for various mutations. The newly identified IVS 10 splicing mutation was found in 32% of the mutant alleles and comprises 74.5% of the mutations that could be typed: 261arg-gln (6.8%), 158arg-gly (2.3%), 252arg-trp (1.1%), 280glu-lys (-), and 272gly-stop (-) were the other mutations that were screened.

Entities:  

Mesh：

Substances：

Year:  1993        PMID： 8445616      PMCID： PMC1016269          DOI： 10.1136/jmg.30.2.129

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  Inherited metabolic disorders in Turkey.

Authors:  I Ozalp; T Coskun; S Tokol; G Demircin; E Mönch
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

2.  Phenylketonuria mutation in southern Europeans.

Authors:  L Kalaydjieva; B Dworniczak; C Aulehla-Scholz; M Devoto; G Romeo; M Stuhrmann; J Horst
Journal:  Lancet       Date:  1991-04-06       Impact factor: 79.321

Review 3.  The polymerase chain reaction: current and future clinical applications.

Authors:  J R Lynch; J M Brown
Journal:  J Med Genet       Date:  1990-01       Impact factor: 6.318

4.  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

5.  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

6.  CpG dinucleotides are mutation hot spots in phenylketonuria.

Authors:  V Abadie; S Lyonnet; N Maurin; M Berthelon; C Caillaud; F Giraud; J F Mattei; J Rey; F Rey; A Munnich
Journal:  Genomics       Date:  1989-11       Impact factor: 5.736

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.  Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus.

Authors:  M Berthelon; C Caillaud; F Rey; P Labrune; D Melle; J Feingold; J Frézal; M L Briard; J P Farriaux; P Guibaud
Journal:  Hum Genet       Date:  1991-02       Impact factor: 4.132

9.  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

10.  Polymorphic DNA haplotypes at the human phenylalanine hydroxylase locus and their relationship with phenylketonuria.

Authors:  R Chakraborty; A S Lidsky; S P Daiger; F Güttler; S Sullivan; A G Dilella; S L Woo
Journal:  Hum Genet       Date:  1987-05       Impact factor: 4.132
View more
  14 in total

1.  Molecular basis of mild hyperphenylalaninaemia in Turkey.

Authors:  E Yilmaz; F Cali; V Roman; I Ozalp; T Coşkun; A Tokatli; H S Kalkanoğlu; M Ozgüç
Journal:  J Inherit Metab Dis       Date:  2000-07       Impact factor: 4.982

2.  Screening of three Mediterranean phenylketonuria mutations in Tunisian families.

Authors:  Sameh Khemir; Hajer Siala; Sameh Hadj Taieb; Wafa Cherif; Hatem Azzouz; Rym Kéfi; Sonia Abdelhak; Naziha Khouja; Neji Tebib; Taieb Massaoud; Marie Françoise Ben Dridi; Naziha Kaabachi
Journal:  J Genet       Date:  2012       Impact factor: 1.166

Review 3.  Phenylketonuria in Britain: genetic analysis gives a historical perspective of the disorder but will it predict the future for affected individuals?

Authors:  L A Tyfield
Journal:  Mol Pathol       Date:  1997-08

4.  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

5.  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

6.  A novel compound-primed multiplex ARMS-PCR (CPMAP) for simultaneous detection of common PAH gene mutations.

Authors:  Maryam Shaykholeslam Esfahani; Ehsan Shaykholeslam Esfahani; Sadeq Vallian
Journal:  Metab Brain Dis       Date:  2018-04-03       Impact factor: 3.584

7.  Genetic and neurological evaluation of untreated and late-treated patients with phenylketonuria.

Authors:  I Ozalp; T Coşkun; M Ozgüç; A Tokatli; K Yalaz; L Vanli; E Yilmaz; A Erbay
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

8.  Association between mutations and the variable number tandem repeat alleles in a sample of Turkish phenylketonuria patients.

Authors:  M Ozgüç; E Yilmaz; H Erdem; T Coşkun; A Tokatli; I Ozalp
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

9.  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

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

Authors:  J Traeger-Synodinos; E Kanavakis; M Kalogerakou; K Soulpi; S Missiou-Tsangaraki; C Kattamis
Journal:  Hum Genet       Date:  1994-11       Impact factor: 4.132
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.