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Journal Abstract Search
229 related items for PubMed ID: 7901929
1. Frequency of the IVS-10nt546 mutation in 44 Turkish phenylketonuria patients. Ozgüç M, Ozalp I, Coşkun T, Yilmaz E, Erdem H, Ayter S. Turk J Pediatr; 1993; 35(1):11-4. PubMed ID: 7901929 [Abstract] [Full Text] [Related]
2. Haplotype analysis of phenylalanine hydroxylase alleles in polish families with phenylketonuria. Jaruzelska J, Borski K, Riess O, Blin N, Słomski R. Acta Biochim Pol; 1989; 36(3-4):323-32. PubMed ID: 2577230 [Abstract] [Full Text] [Related]
3. 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 [Abstract] [Full Text] [Related]
4. Modern techniques of differentiating the various phenotypes of phenylketonuria. Guttler F. Postgrad Med J; 1989 Jun; 65 Suppl 2():S2-6. PubMed ID: 2576129 [Abstract] [Full Text] [Related]
5. [Correlation between genotypes and biochemical phenotypes of phenylalanine hydroxylase in patients with phenylketonuria]. Shu JB, Meng YT, Dang LH, Fu BJ, Song L. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):635-41. PubMed ID: 23225039 [Abstract] [Full Text] [Related]
6. Illegitimate transcription of phenylalanine hydroxylase for detection of mutations in patients with phenylketonuria. Ramus SJ, Forrest SM, Cotton RG. Hum Mutat; 1992 Dec; 1(2):154-8. PubMed ID: 1301202 [Abstract] [Full Text] [Related]
8. 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 [Abstract] [Full Text] [Related]
9. Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families. Stuhrmann M, Riess O, Mönch E, Kurdoglu G. Clin Genet; 1989 Aug; 36(2):117-21. PubMed ID: 2569949 [Abstract] [Full Text] [Related]
11. Phenylalanine hydroxylase gene: a novel splice mutation in intron 2 in two German and Polish families with severe phenylketonuria. Zygulska M, Eigel A, Pietrzyk JJ, Horst J. Hum Mutat; 1993 Aug; 2(3):238-9. PubMed ID: 8364593 [No Abstract] [Full Text] [Related]
12. [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 [Abstract] [Full Text] [Related]
13. 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 [Abstract] [Full Text] [Related]
14. [Mutation analysis of the PAH gene in patients with phenylketonuria in Gansu province]. Yan YS, Wang Z, Hao SJ, Meng Y, Zheng L, Huang SZ. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Aug 06; 26(4):419-22. PubMed ID: 20017307 [Abstract] [Full Text] [Related]
15. 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 Aug 06; 12(5):314-9. PubMed ID: 9792407 [Abstract] [Full Text] [Related]
16. 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 06; 54(6):335-9. PubMed ID: 19444284 [Abstract] [Full Text] [Related]
17. [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 06; 22(2):134-7. PubMed ID: 15793771 [Abstract] [Full Text] [Related]
18. 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 06; 17(2):122-30. PubMed ID: 11180595 [Abstract] [Full Text] [Related]
19. [New polymorphic sites in the structure of the human phenylalanine hydroxylase gene]. Smagulova FO, Morozov IV. Genetika; 2000 Dec 06; 36(12):1716-8. PubMed ID: 11190481 [Abstract] [Full Text] [Related]
20. 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 10; 601(1-2):39-45. PubMed ID: 16765994 [Abstract] [Full Text] [Related] Page: [Next] [New Search]