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Journal Abstract Search

110 related items for PubMed ID: 9691134

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  • 23. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
    Acosta AX, Silva WA, Carvalho TM, Zago MA.
    Hum Mutat; 2001; 17(1):77. PubMed ID: 11139255
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  • 25. Mutation spectrum and phenylalanine hydroxylase RFLP/VNTR background in 44 Romanian phenylketonuric alleles.
    Popescu T, Blazkova M, Kozak L, Jebeleanu G, Popescu A.
    Hum Mutat; 1998; 12(5):314-9. PubMed ID: 9792407
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  • 29. Mutations in the phenylalanine hydroxylase gene identified in 95 patients with phenylketonuria using novel systems of mutation scanning and specific genotyping based upon thermal melt profiles.
    Dobrowolski SF, Ellingson C, Coyne T, Grey J, Martin R, Naylor EW, Koch R, Levy HL.
    Mol Genet Metab; 2007 Jul; 91(3):218-27. PubMed ID: 17502162
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  • 30. Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.
    O'Donnell KA, Tighe O, O'Neill C, Naughten E, Mayne PD, McCarthy TV, Vaughan P, Croke DT.
    Hum Mutat; 2001 May; 17(5):432. PubMed ID: 11317360
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