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27 in total

Review 1. 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

2. Different clinical manifestations of hyperphenylalaninemia in three siblings with identical phenylalanine hydroxylase genes.

Authors: D DiSilvestre; R Koch; J Groffen
Journal: Am J Hum Genet Date: 1991-05 Impact factor: 11.025

Review 3. Prenatal diagnosis of enzyme defects--an update.

Authors: B Winchester; E Young
Journal: Arch Dis Child Date: 1991-04 Impact factor: 3.791

4. Study design and description of patients.

Authors: P Lutz; H Schmidt; U Batzler
Journal: Eur J Pediatr Date: 1990 Impact factor: 3.183

5. 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

6. Molecular heterogeneity at the phenylalanine hydroxylase locus in the population of the south-west of England.

Authors: L A Tyfield; M J Osborn; J B Holton
Journal: J Med Genet Date: 1991-04 Impact factor: 6.318

7. Haplotype distribution and molecular defects of PKU in Italy.

Authors: I Dianzani; C Camaschella; G Saglio; G B Ferrero; G Romeo; M Devoto; C Romano; R Cerone; M Giovannini; E Riva
Journal: J Inherit Metab Dis Date: 1990 Impact factor: 4.982

8. Acetylation pharmacogenetics. The slow acetylator phenotype is caused by decreased or absent arylamine N-acetyltransferase in human liver.

Authors: D M Grant; K Mörike; M Eichelbaum; U A Meyer
Journal: J Clin Invest Date: 1990-03 Impact factor: 14.808

9. Haplotype distribution and mutations at the PAH locus in Croatia.

Authors: I Barić; D Mardesić; G Gjurić; V Sarnavka; B Göbel-Schreiner; U Lichter-Konecki; D S Konecki; F K Trefz
Journal: Hum Genet Date: 1992 Sep-Oct Impact factor: 4.132

10. A missense mutation, S349P, completely inactivates phenylalanine hydroxylase in north African Jews with phenylketonuria.

Authors: M Weinstein; R C Eisensmith; V Abadie; S Avigad; S Lyonnet; G Schwartz; A Munnich; S L Woo; Y Shiloh
Journal: Hum Genet Date: 1993-02 Impact factor: 4.132