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Journal Abstract Search

213 related items for PubMed ID: 11935335

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  • 2. A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
    Kleiman S, Bernstein J, Schwartz G, Eisensmith RC, Woo SL, Shiloh Y.
    Hum Mutat; 1992; 1(4):340-3. PubMed ID: 1301942
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  • 5. The activity of the highly inducible mouse phenylalanine hydroxylase gene promoter is dependent upon a tissue-specific, hormone-inducible enhancer.
    Faust DM, Catherin AM, Barbaux S, Belkadi L, Imaizumi-Scherrer T, Weiss MC.
    Mol Cell Biol; 1996 Jun; 16(6):3125-37. PubMed ID: 8649424
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  • 7. [Identification of a nature of mutation in the 12th exon of phenylalanine hydroxylase gene in patients with phenylketonuria].
    Skriabin BV, Koval'chuk LA, Khal'chitskiĭ SE, Gol'tsov AA, Kaboev OK, Plutalov OV, Berlin IuA, Shvarts EI.
    Bioorg Khim; 1989 Dec; 15(12):1690-2. PubMed ID: 2634967
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  • 10. Molecular epidemiology of phenylalanine hydroxylase deficiency in Southern Italy: a 96% detection rate with ten novel mutations.
    Daniele A, Cardillo G, Pennino C, Carbone MT, Scognamiglio D, Correra A, Pignero A, Castaldo G, Salvatore F.
    Ann Hum Genet; 2007 Mar; 71(Pt 2):185-93. PubMed ID: 17096675
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  • 13. Mutations of the phenylalanine hydroxylase (PAH) gene in Brazilian patients with phenylketonuria.
    Acosta A, Silva W, Carvalho T, Gomes M, Zago M.
    Hum Mutat; 2001 Feb; 17(2):122-30. PubMed ID: 11180595
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  • 14. Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
    Jennings IG, Cotton RG, Kobe B.
    Eur J Hum Genet; 2000 Sep; 8(9):683-96. PubMed ID: 10980574
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  • 15. Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria.
    Zygulska M, Eigel A, Pietrzyk JJ, Horst J.
    Hum Mutat; 1993 Sep; 2(3):238-9. PubMed ID: 8364593
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  • 16. Molecular analysis of phenylketonuria in Denmark: 99% of the mutations detected by denaturing gradient gel electrophoresis.
    Guldberg P, Henriksen KF, Güttler F.
    Genomics; 1993 Jul; 17(1):141-6. PubMed ID: 8406445
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  • 17. The structural basis of phenylketonuria.
    Erlandsen H, Stevens RC.
    Mol Genet Metab; 1999 Oct; 68(2):103-25. PubMed ID: 10527663
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  • 18. [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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  • 19. Molecular basis of phenylketonuria in Cuba.
    Desviat LR, Pérez B, Gutierrez E, Sánchez A, Barrios B, Ugarte M.
    Hum Mutat; 2001 Sep; 18(3):252. PubMed ID: 11524738
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  • 20. 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 Sep; 3(3):312-4. PubMed ID: 8019568
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