249 related articles for article (PubMed ID: 1677790)
1. [Molecular genetic aspects of phenylketonuria (PKU)].
Giltay JC; van Hoef AM; de Weger R; Duran M; Berger R; Beemer FA
Tijdschr Kindergeneeskd; 1991 Jun; 59(3):77-80. PubMed ID: 1677790
[TBL] [Abstract][Full Text] [Related]
2. [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]
3. Molecular analysis of the phenylalanine hydroxylase gene in Mexican phenylketonuric patients.
Nicolini H; Cruz C; Camarena B; Fernanda Merino M; Bilbao G; Vela M; Velázquez A; Pérez B; Desviat L; Ugarte M
Arch Med Res; 1995; 26(1):53-7. PubMed ID: 7711448
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. [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; 134(40):1954-8. PubMed ID: 1978255
[TBL] [Abstract][Full Text] [Related]
6. 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
[TBL] [Abstract][Full Text] [Related]
7. The molecular basis of phenylalanine hydroxylase deficiency in Croatia.
Zschocke J; Preusse A; Sarnavka V; Fumic K; Mardesic D; Hoffmann GF; Baric I
Hum Mutat; 2003 Apr; 21(4):399. PubMed ID: 12655552
[TBL] [Abstract][Full Text] [Related]
8. Modern techniques of differentiating the various phenotypes of phenylketonuria.
Guttler F
Postgrad Med J; 1989; 65 Suppl 2():S2-6. PubMed ID: 2576129
[TBL] [Abstract][Full Text] [Related]
9. [Mutation of the phenylalanine hydroxylase gene in the population of central Bohemia. Relation to the clinical picture of phenylketonuria].
Růzicková S; Kozák L; Blazková M; Kapras J; St'astná S
Cas Lek Cesk; 1997 May; 136(9):282-5. PubMed ID: 9264877
[TBL] [Abstract][Full Text] [Related]
10. Haplotype distribution and molecular defects at the phenylalanine hydroxylase locus in Italy.
Dianzani I; Devoto M; Camaschella C; Saglio G; Ferrero GB; Cerone R; Romano C; Romeo G; Giovannini M; Riva E
Hum Genet; 1990 Nov; 86(1):69-72. PubMed ID: 1979309
[TBL] [Abstract][Full Text] [Related]
11. Mutation screening of phenylketonuria in the Far East of Russia.
Sueoka H; Moshinetsky A; Nagao M; Chiba S
J Hum Genet; 1999; 44(6):368-71. PubMed ID: 10570906
[TBL] [Abstract][Full Text] [Related]
12. [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]
13. [Spectrum and methods of detection of mutations in a phenylalanine hydroxylase gene from patients with phenylketonuria from the Novosibirsk region].
Smagulova FO; Morozov IV
Bioorg Khim; 2000 Nov; 26(11):838-43. PubMed ID: 11696894
[TBL] [Abstract][Full Text] [Related]
14. Mutation at the phenylalanine hydroxylase gene (PAH) and its use to document population genetic variation: the Quebec experience.
Carter KC; Byck S; Waters PJ; Richards B; Nowacki PM; Laframboise R; Lambert M; Treacy E; Scriver CR
Eur J Hum Genet; 1998 Jan; 6(1):61-70. PubMed ID: 9781015
[TBL] [Abstract][Full Text] [Related]
15. Ten novel mutations in the phenylalanine hydroxylase gene (PAH) observed in Brazilian patients with phenylketonuria.
Acosta AX; Silva WA; Carvalho TM; Zago MA
Hum Mutat; 2001; 17(1):77. PubMed ID: 11139255
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Molecular basis of phenylketonuria in Venezuela: presence of two novel null mutations.
De Lucca M; Pérez B; Desviat LR; Ugarte M
Hum Mutat; 1998; 11(5):354-9. PubMed ID: 9600453
[TBL] [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; 17(2):122-30. PubMed ID: 11180595
[TBL] [Abstract][Full Text] [Related]
19. [Novel mutations identified in exon 7 of phenylalanine hydroxylase gene in Chinese].
Sun G; Jiang L; Zhang X; Tong B; Dong G; Sun K
Yi Chuan Xue Bao; 1997; 24(6):492-5. PubMed ID: 9575658
[TBL] [Abstract][Full Text] [Related]
20. Phenylketonuria and the phenylalanine hydroxylase gene.
Eisensmith RC; Woo SL
Mol Biol Med; 1991 Feb; 8(1):3-18. PubMed ID: 1943687
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
