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22. [The clinical and molecular genetic characteristics of phenylketonuria patients in the Republic of Crimea]. Afanas'eva NA; Bychkova AM; Livshits LA; Bariliak IR Tsitol Genet; 1998; 32(1):8-14. PubMed ID: 9695246 [TBL] [Abstract][Full Text] [Related]
23. [Analysis of the A/C polymorphic site within the phenylalanine hydroxylase gene]. Huang S; Li Hui ; Miao S; Xu L; Fang B; Liu G; Luo H Yi Chuan Xue Bao; 1996; 23(3):169-73. PubMed ID: 8950848 [TBL] [Abstract][Full Text] [Related]
24. [Analysis of mutations in the phenylalanine hydroxylase gene in Ukrainian families at high risk for phenylketonuria]. Nechiporenko MV; Lalivshits LA Tsitol Genet; 2000; 34(6):59-63. PubMed ID: 11391893 [TBL] [Abstract][Full Text] [Related]
25. Five novel missense mutations of the phenylalanine hydroxylase gene in phenylketonuria. Bénit P; Rey F; Melle D; Munnich A; Rey J Hum Mutat; 1994; 4(3):229-31. PubMed ID: 7833954 [No Abstract] [Full Text] [Related]
26. The possibility for prenatal diagnosis of PKU by linkage analyses based on phenylalanine hydroxylase locus specific DNA-polymorphisms. Woo SL; Robson JH; Güttler F J Inherit Metab Dis; 1984; 7 Suppl 2():139-40. PubMed ID: 6434870 [No Abstract] [Full Text] [Related]
27. [Mutation in the structure of exon 7 of the phenylalanine hydroxylase in phenylketonuria patients from the Novosibirsk area]. Smagulova FO; Maslennikov AB; Morozov IV; Kitaĭnik GP Genetika; 2000 Jun; 36(6):849-52. PubMed ID: 10923269 [TBL] [Abstract][Full Text] [Related]
28. The metabolic and molecular bases of tetrahydrobiopterin-responsive phenylalanine hydroxylase deficiency. Blau N; Erlandsen H Mol Genet Metab; 2004 Jun; 82(2):101-11. PubMed ID: 15171997 [TBL] [Abstract][Full Text] [Related]
29. In vitro expression analysis of R68G and R68S mutations in phenylalanine hydroxylase gene. Zekanowsk C; Perez B; Desviat LR; Wiszniewski W; Ugarte M Acta Biochim Pol; 2000; 47(2):365-9. PubMed ID: 11051201 [TBL] [Abstract][Full Text] [Related]
30. Phenylalanine hydroxylase in human placenta: novel system for study of phenylketonuria. Matalon R; Justice P; Deanching MN Lancet; 1977 Apr; 1(8016):853-4. PubMed ID: 67354 [No Abstract] [Full Text] [Related]
31. Molecular basis of PKU in China. Lo WH; Wang T; Eisensmith R; Woo SL Chin Med Sci J; 1993 Sep; 8(3):180-5. PubMed ID: 8142636 [No Abstract] [Full Text] [Related]
33. An ongoing debate over phenylalanine hydroxylase deficiency in phenylketonuria. Scriver CR J Clin Invest; 1998 Jun; 101(12):2613-4. PubMed ID: 9637693 [No Abstract] [Full Text] [Related]
34. 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; 2(3):238-9. PubMed ID: 8364593 [No Abstract] [Full Text] [Related]
35. Novel phenylketonuria mutation detected by analysis of ectopically transcribed phenylalanine hydroxylase mRNA from lymphoblast. Takahashi K; Kure S; Matsubara Y; Narisawa K Lancet; 1992 Dec; 340(8833):1473. PubMed ID: 1360590 [No Abstract] [Full Text] [Related]
36. Impact of the phenylalanine hydroxylase gene on maternal phenylketonuria outcome. Güttler F; Azen C; Guldberg P; Romstad A; Hanley WB; Levy HL; Matalon R; Rouse BM; Trefz F; de la Cruz F; Koch R Pediatrics; 2003 Dec; 112(6 Pt 2):1530-3. PubMed ID: 14654659 [TBL] [Abstract][Full Text] [Related]
37. An artifact band frequently associated with variable number of tandem repeat marker at phenylalanine hydroxylase gene: application in carrier detection and prenatal diagnosis of phenylketonuria. Fazeli Z; Vallian S Mol Biol Rep; 2011 Jun; 38(5):3395-9. PubMed ID: 21107727 [TBL] [Abstract][Full Text] [Related]
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40. [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 [TBL] [Abstract][Full Text] [Related] [Previous] [Next] [New Search]