261 related articles for article (PubMed ID: 24661517)
21. 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
[TBL] [Abstract][Full Text] [Related]
22. [Mutational spectrum of phenylalanine hydroxylase gene and identification of novel mutations in patients with hyperphenylalaninemia in Jiangsu province].
Zhang JJ; Sun Y; Sun YJ; Huang ML; Zhang J; Liang XW; Jiang T; Xu ZF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2013 Oct; 30(5):513-7. PubMed ID: 24078561
[TBL] [Abstract][Full Text] [Related]
23. Phenylketonuria mutations in Northern China.
Song F; Qu YJ; Zhang T; Jin YW; Wang H; Zheng XY
Mol Genet Metab; 2005 Dec; 86 Suppl 1():S107-18. PubMed ID: 16256386
[TBL] [Abstract][Full Text] [Related]
24. Rapid mutation screening of phenylketonuria by polymerase chain reaction-linked restriction enzyme assay and direct sequence of the phenylalanine hydroxylase gene: clinical application in northern Japan and northern China.
Sueoka H; Nagao M; Chiba S
Genet Test; 2000; 4(3):249-56. PubMed ID: 11142755
[TBL] [Abstract][Full Text] [Related]
25. [Study on mutations of exon 12 of the PAH gene in 127 phenylketonuria patients].
Qiu WJ; Zhang YF; Ye J; Han LS; Gu XF
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun; 21(3):261-3. PubMed ID: 15192831
[TBL] [Abstract][Full Text] [Related]
26. [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; 22(2):134-7. PubMed ID: 15793771
[TBL] [Abstract][Full Text] [Related]
27. [The mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Henan province].
Wang FY; Shao CJ; Feng HG; Li CM
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Dec; 27(6):644-9. PubMed ID: 21154324
[TBL] [Abstract][Full Text] [Related]
28. [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
[TBL] [Abstract][Full Text] [Related]
29. Molecular analysis of phenylketonuria (PKU) in newborns from Texas.
Yang Y; Drummond-Borg M; Garcia-Heras J
Hum Mutat; 2001 Jun; 17(6):523. PubMed ID: 11385716
[TBL] [Abstract][Full Text] [Related]
30. [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
[TBL] [Abstract][Full Text] [Related]
31. [Mutation spectrum of phenylalanine hydroxylase gene in patients with phenylketonuria in Tianjin and surrounding areas of Northern China].
Song L; Dang L; Meng Y; Fu B
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Feb; 27(1):7-12. PubMed ID: 20140859
[TBL] [Abstract][Full Text] [Related]
32. Molecular characterization of phenylketonuria and tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency in Japan.
Okano Y; Kudo S; Nishi Y; Sakaguchi T; Aso K
J Hum Genet; 2011 Apr; 56(4):306-12. PubMed ID: 21307867
[TBL] [Abstract][Full Text] [Related]
33. [Genetic diagnosis of phenylketonuria. III. Mutations of phenylalanine hydroxylase gene in Orientals].
Takarada Y; Yamashita K; Kagawa S; Zhang QZ; Matsuoka A
Rinsho Byori; 1994 Nov; 42(11):1158-64. PubMed ID: 7844887
[TBL] [Abstract][Full Text] [Related]
34. Mutation analysis of PAH gene in patients with PKU in western Iran and its association with polymorphisms: identification of four novel mutations.
Alibakhshi R; Moradi K; Mohebbi Z; Ghadiri K
Metab Brain Dis; 2014 Mar; 29(1):131-8. PubMed ID: 24048906
[TBL] [Abstract][Full Text] [Related]
35. [The mutation analysis of PAH gene and prenatal diagnosis in classical phenylketonuria family].
Yan Y; Hao S; Yao F; Sun Q; Zheng L; Zhang Q; Zhang C; Yang T; Huang S
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):686-92. PubMed ID: 25449068
[TBL] [Abstract][Full Text] [Related]
36. Mutation spectrum of phenylketonuria in Syrian population: genotype-phenotype correlation.
Murad H; Dabboul A; Moassas F; Alasmar D; Al-Achkar W
Gene; 2013 Oct; 528(2):241-7. PubMed ID: 23856132
[TBL] [Abstract][Full Text] [Related]
37. Mutation analysis of the phenylalanine hydroxylase gene and its clinical implications in two Japanese patients with non-phenylketonuria hyperphenylalaninemia.
Kibayashi M; Nagao M; Chiba S
J Hum Genet; 1998; 43(4):231-6. PubMed ID: 9852673
[TBL] [Abstract][Full Text] [Related]
38. The importance of arginine mutation for the evolutionary structure and function of phenylalanine hydroxylase gene.
Lüleyap HU; Alptekin D; Pazarbaşi A; Kasap M; Kasap H; Demirhindi H; Mungan N; Ozer G; Froster UG
Mutat Res; 2006 Oct; 601(1-2):39-45. PubMed ID: 16765994
[TBL] [Abstract][Full Text] [Related]
39. [The research of combining high resolution melting with multiplex ligation-dependent probe amplification technology in the mutation scanning for PAH gene].
Ji CY; Sun LL; Cao LH; Hu Y; Huang H; Wang SS; Luo Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2011 Dec; 28(6):649-53. PubMed ID: 22161097
[TBL] [Abstract][Full Text] [Related]
40. 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
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
