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Results: 1-10 |
Results: 10
MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE
Authors: CARTER KC BYCK S WATERS PJ RICHARDS B NOWACKI PM LAFRAMBOISE R LAMBERT M TREACY E SCRIVER CR
Citation: Kc. Carter et al., MUTATION AT THE PHENYLALANINE-HYDROXYLASE GENE (PAH) AND ITS USE TO DOCUMENT POPULATION GENETIC-VARIATION - THE QUEBEC EXPERIENCE, European journal of human genetics, 6(1), 1998, pp. 61-70
PAH-MUTATION-ANALYSIS-CONSORTIUM-DATABASE - 1997 - PROTOTYPE FOR RELATIONAL LOCUS-SPECIFIC MUTATION DATABASES
Authors: NOWACKI PM BYCK S PREVOST L SCRIVER CR
Citation: Pm. Nowacki et al., PAH-MUTATION-ANALYSIS-CONSORTIUM-DATABASE - 1997 - PROTOTYPE FOR RELATIONAL LOCUS-SPECIFIC MUTATION DATABASES, Nucleic acids research, 26(1), 1998, pp. 220-225
PREDICTION OF MULTIPLE HYPERMUTABLE CODONS IN THE HUMAN PAH GENE - CODON-280 CONTAINS RECURRENT MUTATIONS IN QUEBEC AND OTHER POPULATIONS
Authors: BYCK S TYFIELD L CARTER K SCRIVER CR
Citation: S. Byck et al., PREDICTION OF MULTIPLE HYPERMUTABLE CODONS IN THE HUMAN PAH GENE - CODON-280 CONTAINS RECURRENT MUTATIONS IN QUEBEC AND OTHER POPULATIONS, Human mutation, 9(4), 1997, pp. 316-321
THE PAH MUTATION ANALYSIS CONSORTIUM DATABASE - UPDATE 1996
Authors: NOWACKI P BYCK S PREVOST L SCRIVER CR
Citation: P. Nowacki et al., THE PAH MUTATION ANALYSIS CONSORTIUM DATABASE - UPDATE 1996, Nucleic acids research, 25(1), 1997, pp. 139-142
HUMAN PHENYLALANINE-HYDROXYLASE MUTATIONS AND HYPERPHENYLALANINEMIA PHENOTYPES - A METANALYSIS OF GENOTYPE-PHENOTYPE CORRELATIONS
Authors: KAYAALP E TREACY E WATERS PJ BYCK S NOWACKI P SCRIVER CR
Citation: E. Kayaalp et al., HUMAN PHENYLALANINE-HYDROXYLASE MUTATIONS AND HYPERPHENYLALANINEMIA PHENOTYPES - A METANALYSIS OF GENOTYPE-PHENOTYPE CORRELATIONS, American journal of human genetics, 61(6), 1997, pp. 1309-1317
PAH MUTATION ANALYSIS CONSORTIUM DATABASE - A DATABASE FOR DISEASE-PRODUCING AND OTHER ALLELIC VARIATION AT THE HUMAN PAH LOCUS
Authors: HOANG L BYCK S PREVOST L SCRIVER CR
Citation: L. Hoang et al., PAH MUTATION ANALYSIS CONSORTIUM DATABASE - A DATABASE FOR DISEASE-PRODUCING AND OTHER ALLELIC VARIATION AT THE HUMAN PAH LOCUS, Nucleic acids research, 24(1), 1996, pp. 127-131
GENETIC GEOGRAPHY AND EVIDENCE FOR SELECTION, DRIFT, MIGRATION AND RECURRENT MUTATION AT THE PAH LOCUS IN HUMAN-POPULATIONS
Authors: HOANG L BYCK S CARTER K PREVOST L SCRIVER CR
Citation: L. Hoang et al., GENETIC GEOGRAPHY AND EVIDENCE FOR SELECTION, DRIFT, MIGRATION AND RECURRENT MUTATION AT THE PAH LOCUS IN HUMAN-POPULATIONS, American journal of human genetics, 57(4), 1995, pp. 210-210
ANALYSIS OF STR ALLELE SIZE AND VNTR SEQUENCE FOR DETERMINING RECURRENT PAH GENE-MUTATIONS - THE E280K EXAMPLE
Authors: BYCK S TYFIELD L SCRIVER CR
Citation: S. Byck et al., ANALYSIS OF STR ALLELE SIZE AND VNTR SEQUENCE FOR DETERMINING RECURRENT PAH GENE-MUTATIONS - THE E280K EXAMPLE, American journal of human genetics, 57(4), 1995, pp. 914-914
NOVEL MUTATIONS AND HETEROGENEITY OF THE PHENYLALANINE-HYDROXYLASE (PAH) GENE ON QUEBEC PKU CHROMOSOMES
Authors: CARTER KC ROZEN R BYCK S SCRIVER CR
Citation: Kc. Carter et al., NOVEL MUTATIONS AND HETEROGENEITY OF THE PHENYLALANINE-HYDROXYLASE (PAH) GENE ON QUEBEC PKU CHROMOSOMES, American journal of human genetics, 57(4), 1995, pp. 915-915
EVIDENCE FOR ORIGIN, BY RECURRENT MUTATION, OF THE PHENYLALANINE-HYDROXYLASE-R408W MUTATION ON 2 HAPLOTYPES IN EUROPEAN AND QUEBEC POPULATIONS
Authors: BYCK S MORGAN K TYFIELD L DWORNICZAK B SCRIVER CR
Citation: S. Byck et al., EVIDENCE FOR ORIGIN, BY RECURRENT MUTATION, OF THE PHENYLALANINE-HYDROXYLASE-R408W MUTATION ON 2 HAPLOTYPES IN EUROPEAN AND QUEBEC POPULATIONS, Human molecular genetics, 3(9), 1994, pp. 1675-1677
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