These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
3. Evidence for origin, by recurrent mutation, of the phenylalanine hydroxylase R408W mutation on two haplotypes in European and Quebec populations. Byck S; Morgan K; Tyfield L; Dworniczak B; Scriver CR Hum Mol Genet; 1994 Sep; 3(9):1675-7. PubMed ID: 7833927 [TBL] [Abstract][Full Text] [Related]
4. Phenylketonuria mutations and linked haplotypes in the Lithuanian population: origin of the most common R408W mutation. Giannattasio S; Jurgelevicius V; Lattanzio P; Cimbalistienè L; Marra E; Kucinskas V Hum Hered; 1997; 47(3):155-60. PubMed ID: 9156326 [TBL] [Abstract][Full Text] [Related]
5. 'Celtic' phenylketonuria chromosomes found? Evidence in two regions of Quebec Province. Treacy E; Byck S; Clow C; Scriver CR Eur J Hum Genet; 1993; 1(3):220-8. PubMed ID: 7913864 [TBL] [Abstract][Full Text] [Related]
6. Associations between mutations and a VNTR in the human phenylalanine hydroxylase gene. Goltsov AA; Eisensmith RC; Konecki DS; Lichter-Konecki U; Woo SL Am J Hum Genet; 1992 Sep; 51(3):627-36. PubMed ID: 1353941 [TBL] [Abstract][Full Text] [Related]
7. Genetic diversity within the R408W phenylketonuria mutation lineages in Europe. Tighe O; Dunican D; O'Neill C; Bertorelle G; Beattie D; Graham C; Zschocke J; Cali F; Romano V; Hrabincova E; Kozak L; Nechyporenko M; Livshits L; Guldberg P; Jurkowska M; Zekanowski C; Perez B; Desviat LR; Ugarte M; Kucinskas V; Knappskog P; Treacy E; Naughten E; Tyfield L; Byck S; Scriver CR; Mayne PD; Croke DT Hum Mutat; 2003 Apr; 21(4):387-93. PubMed ID: 12655548 [TBL] [Abstract][Full Text] [Related]
8. 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; 12(5):314-9. PubMed ID: 9792407 [TBL] [Abstract][Full Text] [Related]
9. [Analysis of mutations and VNTR-polymorphism in the phenylalanine hydroxylase gene]. Hechyporenko MV; Kravchenko SA; Livshyts LA Ukr Biokhim Zh (1999); 2001; 73(2):63-7. PubMed ID: 11642047 [TBL] [Abstract][Full Text] [Related]
10. Haplotype distribution at the phenylalanine hydroxylase locus in PKU families from the Moravian area of Czechoslovakia. Kozák L; Dvoráková D; Pijácková A; Kamarýt J J Inherit Metab Dis; 1993; 16(2):451-6. PubMed ID: 8105144 [TBL] [Abstract][Full Text] [Related]
11. [Spectrum of phenylalanine hydroxylase gene mutations and genotype-phenotype correlation in the patients with phenylketonuria in Beijing area of China]. Qu YJ; Song F; Jin YW; Wang H; Zhang YM; Qin JL; Qiu L Zhonghua Er Ke Za Zhi; 2008 Feb; 46(2):115-9. PubMed ID: 19099685 [TBL] [Abstract][Full Text] [Related]
12. [Molecular genetic analysis of phenylketonuria in Bashkiria]. Viktorova TV; Murzabaeva SSh; Karunas AU; Magzhanov RV; Khusnutdinova EK Genetika; 1997 Jul; 33(7):992-5. PubMed ID: 9378295 [TBL] [Abstract][Full Text] [Related]
13. Association between haplotypes, hind III-VNTR alleles and mutations at the PAH locus in Sicily. Romano V; Calì F; Guldberg P; Güttler F; Indelicato A; Bosco P; Ceratto N Acta Paediatr Suppl; 1994 Dec; 407():39-40. PubMed ID: 7766953 [TBL] [Abstract][Full Text] [Related]
14. Complete spectrum of PAH mutations in Tataria: presence of Slavic, Turkic and Scandinavian mutations. Kuzmin AI; Eisensmith RC; Goltsov AA; Sergeeva NA; Schwartz EI; Woo SL Eur J Hum Genet; 1995; 3(4):246-55. PubMed ID: 8528673 [TBL] [Abstract][Full Text] [Related]
16. Mutation and haplotype analysis of phenylalanine hydroxylase alleles in classical PKU patients from the Czech Republic: identification of four novel mutations. Kozák L; Blazková M; Kuhrová V; Pijácková A; Růzicková S; St'astná S J Med Genet; 1997 Nov; 34(11):893-8. PubMed ID: 9391881 [TBL] [Abstract][Full Text] [Related]
17. Linkage disequilibrium between mutation and RFLP haplotype at the phenylalanine hydroxylase locus in the German population. Lichter-Konecki U; Schlotter M; Konecki DS; Labeit S; Woo SL; Trefz FK Hum Genet; 1988 Apr; 78(4):347-52. PubMed ID: 2896156 [TBL] [Abstract][Full Text] [Related]
19. Association between minihaplotypes and mutations at the PAH locus in Polish hyperphenylalaninemic patients. Zekanowski C; Jurkowska M; Bal J Hum Hered; 2001; 51(1-2):117-20. PubMed ID: 11096279 [TBL] [Abstract][Full Text] [Related]
20. An amino-acid substitution involved in phenylketonuria is in linkage disequilibrium with DNA haplotype 2. DiLella AG; Marvit J; Brayton K; Woo SL Nature; 1987 May 28-Jun 3; 327(6120):333-6. PubMed ID: 2884570 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]