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151 related items for PubMed ID: 8019568

  • 1. Phenylketonuria in China: identification and characterization of three novel nucleotide substitutions in the human phenylalanine hydroxylase gene.
    Li J, Eisensmith RC, Wang T, Lo WH, Huang SZ, Zeng YT, Yuan LF, Liu SR, Woo SL.
    Hum Mutat; 1994; 3(3):312-4. PubMed ID: 8019568
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  • 2. [Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province].
    Yan YS, Wang Z, Hao SJ, Meng Y, Zheng L, Huang SZ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug; 26(4):419-22. PubMed ID: 20017307
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  • 10. [Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].
    Sun G, Jiang L, Zhang X, Tong B, Dong G, Sun K.
    Yi Chuan Xue Bao; 1997 Aug; 24(6):492-5. PubMed ID: 9575658
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  • 11. Characterization of the mouse phenylalanine hydroxylase mutation Pah(enu3).
    Haefele MJ, White G, McDonald JD.
    Mol Genet Metab; 2001 Jan; 72(1):27-30. PubMed ID: 11161825
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  • 12. Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients.
    Ozgüç M, Ozalp I, Coşkun T, Yilmaz E, Erdem H, Ayter S.
    Turk J Pediatr; 1993 Jan; 35(1):11-4. PubMed ID: 7901929
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  • 13. [Ten novel mutations in the phenylalanine hydroxylase gene identified in Chinese patients with phenylketonuria].
    Song F, Jin YW, Wang H, Yang YL, Zhang YM, Zhang T.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 2003 Apr; 25(2):142-4. PubMed ID: 12905706
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  • 14. [New polymorphic sites in the structure of the human phenylalanine hydroxylase gene].
    Smagulova FO, Morozov IV.
    Genetika; 2000 Dec; 36(12):1716-8. PubMed ID: 11190481
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  • 15. [Identification of novel mutations in the phenylalanine hydroxylase gene of classical phenylketonuria].
    Zhang J, Meng J, Zhai X, Fang G, Gao J, Shi M, Wang Y.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2005 Apr; 22(2):134-7. PubMed ID: 15793771
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  • 16. A 22-bp deletion in the phenylalanine hydroxylase gene causing phenylketonuria in an Arab family.
    Kleiman S, Schwartz G, Woo SL, Shiloh Y.
    Hum Mutat; 1992 Apr; 1(4):344-6. PubMed ID: 1301943
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  • 17. Novel mutation in exon 7 of phenylalanine hydroxylase gene in a Chinese patient with phenylketonuria.
    Takarada Y, Yamashita K, Ohtsuka N, Kagawa S, Matsuoka A.
    Clin Chem; 1993 Nov; 39(11 Pt 1):2357. PubMed ID: 8222247
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  • 18. A novel mutation in exon 8 of the phenylalanine hydroxylase gene in the Polish population.
    Zygulska M, Eigel A, Pietrzyk JJ, Miny P, Horst J.
    Hum Mutat; 1993 Nov; 2(1):74-6. PubMed ID: 8097423
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  • 19. In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene.
    Zekanowsk C, Perez B, Desviat LR, Wiszniewski W, Ugarte M.
    Acta Biochim Pol; 2000 Nov; 47(2):365-9. PubMed ID: 11051201
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  • 20. [Genetical heterogeneity of phenylketonuria].
    Annenkov GA.
    Vopr Med Khim; 1982 Nov; 28(3):62-70. PubMed ID: 7048735
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