110 related articles for article (PubMed ID: 1301201)
1. In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus.
John SW; Scriver CR; Laframboise R; Rozen R
Hum Mutat; 1992; 1(2):147-53. PubMed ID: 1301201
[TBL] [Abstract][Full Text] [Related]
2. Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.
Svensson E; Eisensmith RC; Dworniczak B; von Döbeln U; Hagenfeldt L; Horst J; Woo SL
Hum Mutat; 1992; 1(2):129-37. PubMed ID: 1301200
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Five mutations at the PAH locus account for almost 90% of PKU mutations in French-Canadians from eastern Quebec.
John SW; Rozen R; Laframboise R; Laberge C; Scriver CR
Hum Mutat; 1992; 1(1):72-4. PubMed ID: 1301193
[No Abstract] [Full Text] [Related]
5. Molecular basis of phenylketonuria and related hyperphenylalaninemias: mutations and polymorphisms in the human phenylalanine hydroxylase gene.
Eisensmith RC; Woo SL
Hum Mutat; 1992; 1(1):13-23. PubMed ID: 1301187
[TBL] [Abstract][Full Text] [Related]
6. The mutant genotype is the main determinant of the metabolic phenotype in phenylalanine hydroxylase deficiency.
Bénit P; Rey F; Blandin-Savoja F; Munnich A; Abadie V; Rey J
Mol Genet Metab; 1999 Sep; 68(1):43-7. PubMed ID: 10479481
[TBL] [Abstract][Full Text] [Related]
7. Molecular heterogeneity of nonphenylketonuria hyperphenylalaninemia in 25 Danish patients.
Guldberg P; Henriksen KF; Thöny B; Blau N; Güttler F
Genomics; 1994 May; 21(2):453-5. PubMed ID: 8088845
[No Abstract] [Full Text] [Related]
8. Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
Pey AL; Desviat LR; Gámez A; Ugarte M; Pérez B
Hum Mutat; 2003 Apr; 21(4):370-8. PubMed ID: 12655546
[TBL] [Abstract][Full Text] [Related]
9. Molecular basis of phenylketonuria and a correlation between genotype and phenotype in a heterogeneous southeastern US population.
Eisensmith RC; Martinez DR; Kuzmin AI; Goltsov AA; Brown A; Singh R; Elsas LJ II; Woo SL
Pediatrics; 1996 Apr; 97(4):512-6. PubMed ID: 8632937
[TBL] [Abstract][Full Text] [Related]
10. In vitro expression analysis of mutations in phenylalanine hydroxylase: linking genotype to phenotype and structure to function.
Waters PJ; Parniak MA; Nowacki P; Scriver CR
Hum Mutat; 1998; 11(1):4-17. PubMed ID: 9450897
[TBL] [Abstract][Full Text] [Related]
11. A defective splice site at the phenylalanine hydroxylase gene in phenylketonuria and benign hyperphenylalaninemia among Palestinian Arabs.
Kleiman S; Bernstein J; Schwartz G; Eisensmith RC; Woo SL; Shiloh Y
Hum Mutat; 1992; 1(4):340-3. PubMed ID: 1301942
[TBL] [Abstract][Full Text] [Related]
12. Rapid detection of the R408W and I65T mutations in phenylketonuria by glycosylase mediated polymorphism detection.
O'Donnell KA; Tighe O; O'Neill C; Naughten E; Mayne PD; McCarthy TV; Vaughan P; Croke DT
Hum Mutat; 2001 May; 17(5):432. PubMed ID: 11317360
[TBL] [Abstract][Full Text] [Related]
13. Mutation profiles of phenylketonuria in Quebec populations: evidence of stratification and novel mutations.
Rozen R; Mascisch A; Lambert M; Laframboise R; Scriver CR
Am J Hum Genet; 1994 Aug; 55(2):321-6. PubMed ID: 7913581
[TBL] [Abstract][Full Text] [Related]
14. Functional and structural characterization of novel mutations and genotype-phenotype correlation in 51 phenylalanine hydroxylase deficient families from Southern Italy.
Daniele A; Scala I; Cardillo G; Pennino C; Ungaro C; Sibilio M; Parenti G; Esposito L; Zagari A; Andria G; Salvatore F
FEBS J; 2009 Apr; 276(7):2048-59. PubMed ID: 19292873
[TBL] [Abstract][Full Text] [Related]
15. '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]
16. How PAH gene mutations cause hyper-phenylalaninemia and why mechanism matters: insights from in vitro expression.
Waters PJ
Hum Mutat; 2003 Apr; 21(4):357-69. PubMed ID: 12655545
[TBL] [Abstract][Full Text] [Related]
17. Prediction of multiple hypermutable codons in the human PAH gene: codon 280 contains recurrent mutations in Quebec and other populations.
Byck S; Tyfield L; Carter K; Scriver CR
Hum Mutat; 1997; 9(4):316-21. PubMed ID: 9101291
[TBL] [Abstract][Full Text] [Related]
18. [In vitro expression and structural analysis of four missense mutations (G247S, E280G, P362T, A434D) of phenylalanine hydroxylase gene].
Song F; Qu Y; Okano Y; Ye Z; Zhang Y; Jin Y; Wang H
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2008 Feb; 25(1):1-5. PubMed ID: 18247293
[TBL] [Abstract][Full Text] [Related]
19. Validation of PAH genotype-based predictions of metabolic phenylalanine hydroxylase deficiency phenotype: investigation of PKU/MHP patients from Lithuania.
Kasnauskiene J; Cimbalistiene L; Kucinskas V
Med Sci Monit; 2003 Mar; 9(3):CR142-6. PubMed ID: 12640344
[TBL] [Abstract][Full Text] [Related]
20. Structural interpretation of mutations in phenylalanine hydroxylase protein aids in identifying genotype-phenotype correlations in phenylketonuria.
Jennings IG; Cotton RG; Kobe B
Eur J Hum Genet; 2000 Sep; 8(9):683-96. PubMed ID: 10980574
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
