Literature DB >> 2903669

Collation of RFLP haplotypes at the human phenylalanine hydroxylase (PAH) locus.

S L Woo.   

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Year:  1988        PMID： 2903669      PMCID： PMC1715539     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  14 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

Review 2.  Phenylketonuria and other phenylalanine hydroxylation mutants in man.

Authors:  C R Scriver; C L Clow
Journal:  Annu Rev Genet       Date:  1980       Impact factor: 16.830

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.  Polymorphic DNA haplotypes at the phenylalanine hydroxylase locus in prenatal diagnosis of phenylketonuria.

Authors:  S P Daiger; A S Lidsky; R Chakraborty; R Koch; F Güttler; S L Woo
Journal:  Lancet       Date:  1986-02-01       Impact factor: 79.321

5.  Biochemical characterization of recombinant human phenylalanine hydroxylase produced in Escherichia coli.

Authors:  F D Ledley; H E Grenett; S L Woo
Journal:  J Biol Chem       Date:  1987-02-15       Impact factor: 5.157

6.  The PKU locus in man is on chromosome 12.

Authors:  A S Lidksy; K J Robson; C Thirumalachary; P E Barker; F H Ruddle; S L Woo
Journal:  Am J Hum Genet       Date:  1984-05       Impact factor: 11.025

7.  Gene transfer and expression of human phenylalanine hydroxylase.

Authors:  F D Ledley; H E Grenett; A G DiLella; S C Kwok; S L Woo
Journal:  Science       Date:  1985-04-05       Impact factor: 47.728

8.  Prenatal diagnosis of classic phenylketonuria by DNA analysis.

Authors:  A S Lidsky; F Güttler; S L Woo
Journal:  Lancet       Date:  1985-03-09       Impact factor: 79.321

9.  Cloned human phenylalanine hydroxylase gene allows prenatal diagnosis and carrier detection of classical phenylketonuria.

Authors:  S L Woo; A S Lidsky; F Güttler; T Chandra; K J Robson
Journal:  Nature       Date:  1983 Nov 10-16       Impact factor: 49.962

10.  Polysome immunoprecipitation of phenylalanine hydroxylase mRNA from rat liver and cloning of its cDNA.

Authors:  K J Robson; T Chandra; R T MacGillivray; S L Woo
Journal:  Proc Natl Acad Sci U S A       Date:  1982-08       Impact factor: 11.205
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  34 in total

1.  Linkage disequilibrium between phenylketonuria and RFLP haplotype 1 at the phenylalanine hydroxylase locus in Portugal.

Authors:  C Caillaud; L Vilarinho; A Vilarinho; F Rey; M Berthelon; R Santos; S Lyonnet; M L Briard; R V Osorio; J Rey
Journal:  Hum Genet       Date:  1992-04       Impact factor: 4.132

Review 2.  Heterogeneity of phenylketonuria at the clinical, protein and DNA levels.

Authors:  R G Cotton
Journal:  J Inherit Metab Dis       Date:  1990       Impact factor: 4.982

3.  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

4.  Haplotype of multiple polymorphisms resolved by enzymatic amplification of single DNA molecules.

Authors:  G Ruano; K K Kidd; J C Stephens
Journal:  Proc Natl Acad Sci U S A       Date:  1990-08       Impact factor: 11.205

Review 5.  Molecular genetics of phenylketonuria and its implications.

Authors:  H L Levy
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

6.  Novel PKU mutation on haplotype 2 in French-Canadians.

Authors:  S W John; R Rozen; R Laframboise; C Laberge; C R Scriver
Journal:  Am J Hum Genet       Date:  1989-12       Impact factor: 11.025

7.  Phenylketonuria: variable phenotypic outcomes of the R261Q mutation and maternal PKU in the offspring of a healthy homozygote.

Authors:  S Kleiman; L Vanagaite; J Bernstein; G Schwartz; N Brand; A Elitzur; S L Woo; Y Shiloh
Journal:  J Med Genet       Date:  1993-04       Impact factor: 6.318

8.  Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia.

Authors:  L Kozák; D Dvoráková; A Pijácková; J Kamarýt
Journal:  J Inherit Metab Dis       Date:  1993       Impact factor: 4.982

9.  Identification of a missense phenylketonuria mutation at codon 408 in Chinese.

Authors:  C H Lin; K J Hsiao; T F Tsai; H K Chao; T S Su
Journal:  Hum Genet       Date:  1992-08       Impact factor: 4.132

10.  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
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