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Journal Abstract Search

220 related items for PubMed ID: 7711448

  • 1.
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  • 2. [Analysis of RFLP haplotypes and point mutations at the phenylalanine hydroxylase (PAH) locus in PKU families from north China].
    Fang B.
    Zhongguo Yi Xue Ke Xue Yuan Xue Bao; 1992 Feb; 14(1):46-50. PubMed ID: 1350519
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  • 5. Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
    Carter KC, Byck S, Waters PJ, Richards B, Nowacki PM, Laframboise R, Lambert M, Treacy E, Scriver CR.
    Eur J Hum Genet; 1998 Jan; 6(1):61-70. PubMed ID: 9781015
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  • 6. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2.
    DiLella AG, Marvit J, Brayton K, Woo SL.
    Nature; 1998 Jan; 327(6120):333-6. PubMed ID: 2884570
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  • 10. 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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  • 11. 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; 21(4):399. PubMed ID: 12655552
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  • 12. 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; 6(3):245-50. PubMed ID: 2615649
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  • 13. The molecular basis of phenylketonuria in Latvia.
    Pronina N, Giannattasio S, Lattanzio P, Lugovska R, Vevere P, Kornejeva A.
    Hum Mutat; 2003 Apr; 21(4):398-9. PubMed ID: 12655551
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  • 14. [Phenylketonuria as a model system for DNA diagnosis of hereditary disorders].
    Meijer H, Hekking M, van den Enden AT, Jongbloed RJ, Schrander-Stumpel CT, Geraedts JP.
    Ned Tijdschr Geneeskd; 1990 Oct 06; 134(40):1954-8. PubMed ID: 1978255
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  • 15. Mutation screening of phenylketonuria in the Far East of Russia.
    Sueoka H, Moshinetsky A, Nagao M, Chiba S.
    J Hum Genet; 1999 Oct 06; 44(6):368-71. PubMed ID: 10570906
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  • 16. [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 06; 25(2):142-4. PubMed ID: 12905706
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  • 17. 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 Apr 06; 1(4):340-3. PubMed ID: 1301942
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  • 18. [Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
    Růzicková S, Kozák L, Blazková M, Kapras J, St'astná S.
    Cas Lek Cesk; 1997 May 07; 136(9):282-5. PubMed ID: 9264877
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  • 19. Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
    Dianzani I, Devoto M, Camaschella C, Saglio G, Ferrero GB, Cerone R, Romano C, Romeo G, Giovannini M, Riva E.
    Hum Genet; 1990 Nov 07; 86(1):69-72. PubMed ID: 1979309
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  • 20. Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
    Byck S, Tyfield L, Carter K, Scriver CR.
    Hum Mutat; 1997 Nov 07; 9(4):316-21. PubMed ID: 9101291
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