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Results: 1-9 |
Results: 9
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
MANNOSE-BINDING LECTIN ALLELES IN A PROSPECTIVELY RECRUITED UK POPULATION
Authors: MEAD R JACK D PEMBREY M TYFIELD L TURNER M
Citation: R. Mead et al., MANNOSE-BINDING LECTIN ALLELES IN A PROSPECTIVELY RECRUITED UK POPULATION, Lancet, 349(9066), 1997, pp. 1669-1670
MUTATION ANALYSIS AND PSYCHOMETRIC ASSESSMENTS IN THE GALACTOSEMIA POPULATION OF THE BRITISH-ISLES
Authors: TYFIELD L STEPHENSON A HOLTON JB
Citation: L. Tyfield et al., MUTATION ANALYSIS AND PSYCHOMETRIC ASSESSMENTS IN THE GALACTOSEMIA POPULATION OF THE BRITISH-ISLES, Journal of Medical Genetics, 34, 1997, pp. 17-17
EXPERIMENTAL-DESIGN - A USEFUL TOOL FOR PCR OPTIMIZATION
Authors: BOLEDA MD BRIONES P FARRES J TYFIELD L PI R
Citation: Md. Boleda et al., EXPERIMENTAL-DESIGN - A USEFUL TOOL FOR PCR OPTIMIZATION, BioTechniques, 21(1), 1996, pp. 134-140
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
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
PYRIDOXINE-REFRACTORY CONGENITAL SIDEROBLASTIC ANEMIA WITH EVIDENCE FOR AUTOSOMAL INHERITANCE - EXCLUSION OF LINKAGE TO ALAS2 AT XP11.21 BYPOLYMORPHISM ANALYSIS
Authors: JARDINE PE COTTER PD JOHNSON SA FITZSIMONS EJ TYFIELD L LUNT PW BISHOP DF
Citation: Pe. Jardine et al., PYRIDOXINE-REFRACTORY CONGENITAL SIDEROBLASTIC ANEMIA WITH EVIDENCE FOR AUTOSOMAL INHERITANCE - EXCLUSION OF LINKAGE TO ALAS2 AT XP11.21 BYPOLYMORPHISM ANALYSIS, Journal of Medical Genetics, 31(3), 1994, pp. 213-218
RAPID CLASSIFICATION OF PHENYLKETONURIA GENOTYPES BY ANALYSIS OF HETERODUPLEXES GENERATED BY PCR-AMPLIFIABLE SYNTHETIC DNA
Authors: WOOD N TYFIELD L BIDWELL J
Citation: N. Wood et al., RAPID CLASSIFICATION OF PHENYLKETONURIA GENOTYPES BY ANALYSIS OF HETERODUPLEXES GENERATED BY PCR-AMPLIFIABLE SYNTHETIC DNA, Human mutation, 2(2), 1993, pp. 131-137
DE-NOVO DNA REARRANGEMENT IN ATYPICAL FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY
Authors: JARDINE P JONES M TYFIELD L UPADHYAYA M LUNT P
Citation: P. Jardine et al., DE-NOVO DNA REARRANGEMENT IN ATYPICAL FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY, Clinical genetics, 44(3), 1993, pp. 167-167
Risultati: 1-9 |