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Journal Abstract Search

192 related items for PubMed ID: 1968617

  • 1. A single origin of phenylketonuria in Yemenite Jews.
    Avigad S, Cohen BE, Bauer S, Schwartz G, Frydman M, Woo SL, Niny Y, Shiloh Y.
    Nature; 1990 Mar 08; 344(6262):168-70. PubMed ID: 1968617
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  • 4. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
    DiLella AG, Marvit J, Brayton K, Woo SL.
    Nature; 1990 Mar 08; 327(6120):333-6. PubMed ID: 2884570
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  • 8. A limited spectrum of phenylalanine hydroxylase mutations is observed in phenylketonuria patients in western Poland and implications for treatment with 6R tetrahydrobiopterin.
    Dobrowolski SF, Borski K, Ellingson CC, Koch R, Levy HL, Naylor EW.
    J Hum Genet; 2009 Jun 08; 54(6):335-9. PubMed ID: 19444284
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  • 9. Low proportion of whole exon deletions causing phenylketonuria in Denmark and Germany.
    Birk Møller L, Nygren AO, Scott P, Hougaard P, Bieber Nielsen J, Hartmann C, Güttler F, Tyfield L, Zschocke J.
    Hum Mutat; 2007 Feb 08; 28(2):207. PubMed ID: 17221866
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  • 10. Modern techniques of differentiating the various phenotypes of phenylketonuria.
    Guttler F.
    Postgrad Med J; 1989 Feb 08; 65 Suppl 2():S2-6. PubMed ID: 2576129
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  • 15. The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
    Zschocke J, Preusse A, Sarnavka V, Fumic K, Mardesic D, Hoffmann GF, Baric I.
    Hum Mutat; 2003 Apr 08; 21(4):399. PubMed ID: 12655552
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  • 16. Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients.
    Nicolini H, Cruz C, Camarena B, Fernanda Merino M, Bilbao G, Vela M, Velázquez A, Pérez B, Desviat L, Ugarte M.
    Arch Med Res; 1995 Apr 08; 26(1):53-7. PubMed ID: 7711448
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  • 17. 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 08; 17(2):122-30. PubMed ID: 11180595
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  • 18. Phenylketonuria in the Greek population. Haplotype analysis of the phenylalanine hydroxylase gene and identification of a PKU mutation.
    Hofman KJ, Antonarakis SE, Missiou-Tsangaraki S, Boehm CD, Valle D.
    Mol Biol Med; 1989 Jun 08; 6(3):245-50. PubMed ID: 2615649
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  • 20. [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 08; 22(2):134-7. PubMed ID: 15793771
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