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Results: 1-8 |
Results: 8
Missense mutations associated with RFLP haplotypes i and 4 of the human phenylalanine hydroxylase gene
Authors: Okano, Yoshiyuki Eisensmith, Randy C. Wang, Tao Steinman, Beat Gitzelmann, Richard Woo, Savio L. C.
Citation: Okano, Yoshiyuki et al., Missense mutations associated with RFLP haplotypes i and 4 of the human phenylalanine hydroxylase gene, American journal of human genetics , 46-I(1), 1990, pp. 18-25
Polymorphic DNA haplotypes at the phenylalanine Hydroxylase (PAH) locus in european Families with phenylketonuria (PKU)
Authors: Daiger, Stephen P. Chakraborty, Ranajit Reed, Lori Fekete, György Schuler, Dezso Berenssi, György Nasz, istvan Brdicka, Radim Kamaryt, Jaromir Pijáèková, Anna Sullivan, Sharon Woo, Savio L. C.
Citation: P. Daiger, Stephen et al., Polymorphic DNA haplotypes at the phenylalanine Hydroxylase (PAH) locus in european Families with phenylketonuria (PKU), American journal of human genetics , 45-I(2), 1989, pp. 310-318
Polymorphic DNA haplotypes at the phenlalanine hydroxylase (PAH) locus in asian families with phenylketonuria (PKU)
Authors: Daiger, Stephen P. Reed, Lori Huang, Shu-Shen Zeng, YiTao Wang, Tao Lo, Wilson H. Y. Okano, Yoshiyuki Hase, Yutaka Fukuda, Y. Oura, Toshiaki Tada, Keiya Woo, Savio L. C.
Citation: P. Daiger, Stephen et al., Polymorphic DNA haplotypes at the phenlalanine hydroxylase (PAH) locus in asian families with phenylketonuria (PKU), American journal of human genetics , 45-I(2), 1989, pp. 319-324
Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia.
Authors: Wang, Tao Okano, Yoshiyuki Eisensmith, Randy C. Lo, Wilson H. Y. Huang, Shu-Zhen Zeng, Yi-Tao Woo, Savio L. C.
Citation: Wang, Tao et al., Identification of a novel phenylketonuria (PKU) mutation in the Chinese: further evidence for multiple origins of PKU in Asia., American journal of human genetics , 48-I(3), 1991, pp. 628-630
Haplotype distribution of the human phenylalanine hydroxylase locus in scotland and switzerland
Authors: Sullivan, S. E. Moore, S. D. Connor, I. M. King, M. Cockburn, F. Steinmann, B. Gitzelmann, R. Daiger, Stephen P. Woo, Savio L. C.
Citation: E. Sullivan, S. et al., Haplotype distribution of the human phenylalanine hydroxylase locus in scotland and switzerland, American journal of human genetics , 44(5), 1989, pp. 652-659
Molecular genetics of phenylketonuria in orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene
Authors: Wang, Tao Okano, Yoshiyuki Eisensmith, Randy Huang, Shu-Zhen Zeng, YiTao Lo, Wilson H. Y. Woo, Savio L. C.
Citation: Wang, Tao et al., Molecular genetics of phenylketonuria in orientals: linkage disequilibrium between a termination mutation and haplotype 4 of the phenylalanine hydroxylase gene, American journal of human genetics , 45-II(5), 1989, pp. 675-680
Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.
Authors: Reichardt, Juergen K. V. Packman, Seymour Woo, Savio L. C.
Citation: V. Reichardt, Juergen K. et al., Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase., American journal of human genetics , 49-II(4), 1991, pp. 860-867
Recurrent mutation in the human phenylalanine hydroxylase gene
Authors: Okano, Yoshiyuki Eisensmith, Randy C. Güttler, Fleming Woo, Savio L. C.
Citation: Okano, Yoshiyuki et al., Recurrent mutation in the human phenylalanine hydroxylase gene, American journal of human genetics , 46-II(5), 1990, pp. 919-924
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