Literature DB >> 7011173

Phenylketonuria and other phenylalanine hydroxylation mutants in man.

C R Scriver, C L Clow.   

Abstract

Entities:  

Mesh:

Substances:

Year:  1980        PMID: 7011173     DOI: 10.1146/annurev.ge.14.120180.001143

Source DB:  PubMed          Journal:  Annu Rev Genet        ISSN: 0066-4197            Impact factor:   16.830


× No keyword cloud information.
  14 in total

1.  CpG hotspot causes second mutation in codon 408 of the phenylalanine hydroxylase gene.

Authors:  S J Ramus; S M Forrest; J A Saleeba; R G Cotton
Journal:  Hum Genet       Date:  1992 Sep-Oct       Impact factor: 4.132

2.  Molecular genetics of phenylketonuria in Orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene.

Authors:  T Wang; Y Okano; R Eisensmith; S Z Huang; Y T Zeng; W H Lo; S L Woo
Journal:  Am J Hum Genet       Date:  1989-11       Impact factor: 11.025

3.  hph-1: a mouse mutant with hereditary hyperphenylalaninemia induced by ethylnitrosourea mutagenesis.

Authors:  V C Bode; J D McDonald; J L Guenet; D Simon
Journal:  Genetics       Date:  1988-02       Impact factor: 4.562

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

Authors:  S L Woo
Journal:  Am J Hum Genet       Date:  1988-11       Impact factor: 11.025

5.  A cytogenetic analysis of the Punch-tudor region of chromosome 2R in Drosophila melanogaster.

Authors:  J O'Donnell; R Boswell; T Reynolds; W Mackay
Journal:  Genetics       Date:  1989-02       Impact factor: 4.562

6.  Founder effect of a prevalent phenylketonuria mutation in the Oriental population.

Authors:  T Wang; Y Okano; R C Eisensmith; M L Harvey; W H Lo; S Z Huang; Y T Zeng; L F Yuan; J I Furuyama; T Oura
Journal:  Proc Natl Acad Sci U S A       Date:  1991-03-15       Impact factor: 11.205

7.  Haplotype distribution of the human phenylalanine hydroxylase locus in Scotland and Switzerland.

Authors:  S E Sullivan; S D Moore; J M Connor; M King; F Cockburn; B Steinmann; R Gitzelmann; S P Daiger; S L Woo
Journal:  Am J Hum Genet       Date:  1989-05       Impact factor: 11.025

8.  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

9.  GT to AT transition at a splice donor site causes skipping of the preceding exon in phenylketonuria.

Authors:  J Marvit; A G DiLella; K Brayton; F D Ledley; K J Robson; S L Woo
Journal:  Nucleic Acids Res       Date:  1987-07-24       Impact factor: 16.971

10.  Phenylketonuria (PKU) and the single gene: an old story retold.

Authors:  R M Murphey
Journal:  Behav Genet       Date:  1983-03       Impact factor: 2.805

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.