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Journal Abstract Search

197 related items for PubMed ID: 1338705

  • 1. [Frequencies of 6 known mutations in phenylalanine hydroxylase gene and their application in prenatal gene diagnosis].
    Wang M.
    Zhonghua Yi Xue Za Zhi; 1992 Nov; 72(11):670-3, 702-3. PubMed ID: 1338705
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  • 2. [Detection of the mutational gene in phenylketonuria and prenatal diagnoses by using single strand conformation polymorphism methods].
    Yang T, Yuan L, Huang S.
    Zhonghua Fu Chan Ke Za Zhi; 1996 Jul; 31(7):401-3. PubMed ID: 9275410
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  • 4. Detection of point mutations of the phenylalanine hydroxylase gene and prenatal diagnosis of phenylketonuria.
    Fang B, Yuan L, Wang M, Huang S, Wang T, Miao S, Ye J, Sun N, Lo H, Savio LC.
    Chin Med Sci J; 1992 Dec; 7(4):205-8. PubMed ID: 1307495
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  • 6. Molecular studies and prenatal diagnosis of phenylketonuria in Chinese patients.
    Fan GX, Qing LX, Jun Y, Mei Z.
    Southeast Asian J Trop Med Public Health; 1999 Dec; 30 Suppl 2():63-5. PubMed ID: 11400788
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  • 7. [The power of linkage analysis on PAH gene in prenatal gene diagnosis is improved with three additional short tandem repeat markers].
    Yao FX, Guo H, Han JJ, Meng Y, Sun NH, Huang SZ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2007 Aug; 24(4):382-6. PubMed ID: 17680525
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  • 8. Modern techniques of differentiating the various phenotypes of phenylketonuria.
    Guttler F.
    Postgrad Med J; 1989 Aug; 65 Suppl 2():S2-6. PubMed ID: 2576129
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  • 11. [Mutation analysis of phenylalanine hydroxylase gene in patients w ith phenylketonuria in Henan province].
    GUO HJ, ZHAO ZH, JIANG M, SHI HR, KONG XD.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Apr; 28(2):142-6. PubMed ID: 21462123
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  • 15. 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; 28(2):207. PubMed ID: 17221866
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  • 17. [Screening for mutations in the PAH gene in Chinese: a new splice and a novel polymorphic mutation].
    Xu L, Miao S, Liu G.
    Zhonghua Yi Xue Za Zhi; 1996 Jun; 76(6):451-4. PubMed ID: 9275491
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  • 18. [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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  • 19. [Analysis of mutations in exon 7 of phenylalanine hydroxylase gene among children with phenylketonuria in Ningxia, China].
    Mao XM, He J, Liu Y, Li XQ, Yu WZ, Gao ZH, Cai J.
    Zhongguo Dang Dai Er Ke Za Zhi; 2014 Mar; 16(3):259-62. PubMed ID: 24661517
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  • 20. 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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