Literature DB >> 1347420

Detection of the XmnI RFLP at the human PAH locus by PCR.

A A Goltsov1, R C Eisensmith, S L Woo.   

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Year:  1992        PMID： 1347420      PMCID： PMC312059          DOI： 10.1093/nar/20.4.927-a

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


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  3 in total

1.  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

2.  Polymorphic DNA haplotypes at the phenylalanine hydroxylase (PAH) locus in European families with phenylketonuria (PKU).

Authors:  S P Daiger; R Chakraborty; L Reed; G Fekete; D Schuler; G Berenssi; I Nasz; R Brdicka; J Kamarýt; A Pijácková
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

3.  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
  3 in total
  9 in total

1.  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

2.  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

3.  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

4.  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

5.  The origin of Eastern European Jews revealed by autosomal, sex chromosomal and mtDNA polymorphisms.

Authors:  Avshalom Zoossmann-Diskin
Journal:  Biol Direct       Date:  2010-10-06       Impact factor: 4.540

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.  Discordant PKU phenotype in one family due to disparate genotypes and a novel mutation.

Authors:  J J Johnston; U Lichter-Konecki; E Wilson; B R Cobb; B M Evans; R E Schnur; L-J C Wong
Journal:  J Inherit Metab Dis       Date:  2004       Impact factor: 4.982
  9 in total

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