Literature DB >> 8051931

Molecular and population genetics of phenylketonuria in Orientals: correlation between phenotype and genotype.

Y Okano1, Y Hase, D H Lee, G Takada, Y Shigematsu, T Oura, G Isshiki.   

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Year:  1994        PMID： 8051931     DOI： 10.1007/bf00735425

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  9 in total

1.  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

2.  Missense mutations prevalent in Orientals with phenylketonuria: molecular characterization and clinical implications.

Authors:  T Wang; Y Okano; R C Eisensmith; W H Lo; S Z Huang; Y T Zeng; L F Yuan; S R Liu; S L Woo
Journal:  Genomics       Date:  1991-06       Impact factor: 5.736

3.  Molecular basis of phenotypic heterogeneity in phenylketonuria.

Authors:  Y Okano; R C Eisensmith; F Güttler; U Lichter-Konecki; D S Konecki; F K Trefz; M Dasovich; T Wang; K Henriksen; H Lou
Journal:  N Engl J Med       Date:  1991-05-02       Impact factor: 91.245

4.  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

5.  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

6.  Identification of three novel PKU mutations among Chinese: evidence for recombination or recurrent mutation at the PAH locus.

Authors:  T Wang; Y Okano; R C Eisensmith; W H Lo; S Z Huang; Y T Zeng; L F Yuan; S R Liu; S L Woo
Journal:  Genomics       Date:  1992-05       Impact factor: 5.736

7.  Frequency and distribution of phenylketonuric mutations in Orientals.

Authors:  Y Okano; Y Hase; D H Lee; J Furuyama; H Shintaku; T Oura; G Isshiki
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

8.  Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.

Authors:  E Svensson; R C Eisensmith; B Dworniczak; U von Döbeln; L Hagenfeldt; J Horst; S L Woo
Journal:  Hum Mutat       Date:  1992       Impact factor: 4.878

9.  Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.

Authors:  T Wang; Y Okano; R C Eisensmith; W H Lo; S Z Huang; Y T Zeng; S L Woo
Journal:  Am J Hum Genet       Date:  1991-03       Impact factor: 11.025
  9 in total
  4 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.  The molecular basis of phenylketonuria in Koreans.

Authors:  Dong Hwan Lee; Soo Kyung Koo; Kwang-Soo Lee; Young-Joo Yeon; Hyun-Jeong Oh; Sang-Wun Kim; Sook-Jin Lee; Sung-Soo Kim; Jong-Eun Lee; Inho Jo; Sung-Chul Jung
Journal:  J Hum Genet       Date:  2004-10-16       Impact factor: 3.172

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 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
  4 in total

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