Literature DB >> 1709499

PCR detection of the MspI (Aa) RFLP at the human phenylalanine hydroxylase (PAH) locus.

N Wedemeyer1, B Dworniczak, J Horst.   

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Year:  1991        PMID： 1709499      PMCID： PMC328145          DOI： 10.1093/nar/19.8.1959

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN： 0305-1048            Impact factor:   16.971


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  2 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.  Regional mapping of the phenylalanine hydroxylase gene and the phenylketonuria locus in the human genome.

Authors:  A S Lidsky; M L Law; H G Morse; F T Kao; M Rabin; F H Ruddle; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1985-09       Impact factor: 11.205
  2 in total
  10 in total

1.  Phylogenetic relationship analysis of Iranians and other world populations using allele frequencies at 12 polymorphic markers.

Authors:  Zahra Fazeli; Sadeq Vallian
Journal:  Mol Biol Rep       Date:  2012-10-14       Impact factor: 2.316

2.  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

3.  Haplotypes and linkage disequilibrium at the phenylalanine hydroxylase locus, PAH, in a global representation of populations.

Authors:  J R Kidd; A J Pakstis; H Zhao; R B Lu; F E Okonofua; A Odunsi; E Grigorenko; B B Tamir; J Friedlaender; L O Schulz; J Parnas; K K Kidd
Journal:  Am J Hum Genet       Date:  2000-04-27       Impact factor: 11.025

4.  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

5.  Phenylketonuria in Spain: RFLP haplotypes and linked mutations.

Authors:  L R Desviat; B Pérez; M Ugarte
Journal:  Hum Genet       Date:  1993-10-01       Impact factor: 4.132

6.  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

7.  Characterization of phenylalanine hydroxylase alleles in untreated phenylketonuria patients from Victoria, Australia: origin of alleles and haplotypes.

Authors:  S J Ramus; E P Treacy; R G Cotton
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

8.  PKU in Slovakia: mutation screening and haplotype analysis.

Authors:  L Kádasi; H Poláková; E Feráková; S Hudecová; T Bohusová; I Szomolayová; J Strnová; I Hruskovic; N K Moschonas; V Ferák
Journal:  Hum Genet       Date:  1995-01       Impact factor: 4.132

9.  Updated listing of haplotypes at the human phenylalanine hydroxylase (PAH) locus.

Authors:  R C Eisensmith; S L Woo
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

10.  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
  10 in total

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