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Results: 1-10 |
Results: 10
MOLECULAR CHARACTERIZATION OF HOMOZYGOUS VARIEGATE PORPHYRIA
Authors: ROBERTS AG PUY H DAILEY TA MORGAN RR WHATLEY SD DAILEY HA MARTASEK P NORDMANN Y DEYBACH JC ELDER GH
Citation: Ag. Roberts et al., MOLECULAR CHARACTERIZATION OF HOMOZYGOUS VARIEGATE PORPHYRIA, Human molecular genetics (Print), 7(12), 1998, pp. 1921-1925
GENOTYPING METHOD FOR METHYLENETETRAHYDROFOLATE REDUCTASE (C677T THERMOLABILE VARIANT) USING HETERODUPLEX TECHNOLOGY
Authors: CLARK ZE BOWEN DJ WHATLEY SD BELLAMY MF COLLINS PW MCDOWELL FW
Citation: Ze. Clark et al., GENOTYPING METHOD FOR METHYLENETETRAHYDROFOLATE REDUCTASE (C677T THERMOLABILE VARIANT) USING HETERODUPLEX TECHNOLOGY, Clinical chemistry, 44(11), 1998, pp. 2360-2362
QUANTITATIVE STUDIES OF THE KINETICS OF 5-AMINOLEVULINIC ACID-INDUCEDFLUORESCENCE IN BLADDER TRANSITIONAL-CELL CARCINOMA
Authors: DATTA SN LOH CS MACROBERT AJ WHATLEY SD MATTHEWS PN
Citation: Sn. Datta et al., QUANTITATIVE STUDIES OF THE KINETICS OF 5-AMINOLEVULINIC ACID-INDUCEDFLUORESCENCE IN BLADDER TRANSITIONAL-CELL CARCINOMA, British Journal of Cancer, 78(8), 1998, pp. 1113-1118
THE FREQUENCY OF HEMOCHROMATOSIS-ASSOCIATED ALLELES IS INCREASED IN BRITISH PATIENTS WITH SPORADIC PORPHYRIA-CUTANEA-TARDA
Authors: ROBERTS AG WHATLEY SD NICKLIN S WORWOOD M POINTON JJ STONE C ELDER GH
Citation: Ag. Roberts et al., THE FREQUENCY OF HEMOCHROMATOSIS-ASSOCIATED ALLELES IS INCREASED IN BRITISH PATIENTS WITH SPORADIC PORPHYRIA-CUTANEA-TARDA, Hepatology, 25(1), 1997, pp. 159-161
INCREASED FREQUENCY OF THE HEMOCHROMATOSIS CYS282TYR MUTATION IN SPORADIC PORPHYRIA-CUTANEA-TARDA
Authors: ROBERTS AG WHATLEY SD MORGAN RR WORWOOD M ELDER GH
Citation: Ag. Roberts et al., INCREASED FREQUENCY OF THE HEMOCHROMATOSIS CYS282TYR MUTATION IN SPORADIC PORPHYRIA-CUTANEA-TARDA, Lancet, 349(9048), 1997, pp. 321-323
HEMOCHROMATOSIS GENE-MUTATIONS IN FAMILIAL AND SPORADIC PORPHYRIA-CUTANEA-TARDA
Authors: JACKSON HA WHATLEY SD ROBERTS AG MORGAN RR WORWOOD M ELDER GH
Citation: Ha. Jackson et al., HEMOCHROMATOSIS GENE-MUTATIONS IN FAMILIAL AND SPORADIC PORPHYRIA-CUTANEA-TARDA, Blood, 90(10), 1997, pp. 2682-2682
IDENTIFICATION OF A MUTATION IN THE PROTO-PORPHYRINOGEN OXIDASE GENE IN HOMOZYGOUS VARIEGATE PORPHYRIA
Authors: ROBERTS AG WHATLEY SD DAILEY T DAILEY HA ELDER GH
Citation: Ag. Roberts et al., IDENTIFICATION OF A MUTATION IN THE PROTO-PORPHYRINOGEN OXIDASE GENE IN HOMOZYGOUS VARIEGATE PORPHYRIA, Hepatology, 23(1), 1996, pp. 309-309
ACUTE INTERMITTENT PORPHYRIA CAUSED BY DEFECTIVE SPLICING OF PORPHOBILINOGEN DEAMINASE RNA - A SYNONYMOUS CODON MUTATION AT -22 BP FROM THE5'-SPLICE-SITE CAUSES SKIPPING OF EXON-3
Authors: LLEWELLYN DH SCOBIE GA URQUHART AJ WHATLEY SD ROBERTS AG HARRISON PR ELDER GH
Citation: Dh. Llewellyn et al., ACUTE INTERMITTENT PORPHYRIA CAUSED BY DEFECTIVE SPLICING OF PORPHOBILINOGEN DEAMINASE RNA - A SYNONYMOUS CODON MUTATION AT -22 BP FROM THE5'-SPLICE-SITE CAUSES SKIPPING OF EXON-3, Journal of Medical Genetics, 33(5), 1996, pp. 437-438
PARTIAL CHARACTERIZATION AND ASSIGNMENT OF THE GENE FOR PROTOPORPHYRINOGEN OXIDASE AND VARIEGATE PORPHYRIA TO HUMAN-CHROMOSOME 1Q23
Authors: ROBERTS AG WHATLEY SD DANIELS J HOLMANS P FENTON I OWEN MJ THOMPSON P LONG C ELDER GH
Citation: Ag. Roberts et al., PARTIAL CHARACTERIZATION AND ASSIGNMENT OF THE GENE FOR PROTOPORPHYRINOGEN OXIDASE AND VARIEGATE PORPHYRIA TO HUMAN-CHROMOSOME 1Q23, Human molecular genetics, 4(12), 1995, pp. 2387-2390
DE-NOVO MUTATION AND SPORADIC PRESENTATION OF ACUTE INTERMITTENT PORPHYRIA
Authors: WHATLEY SD ROBERTS AG ELDER GH
Citation: Sd. Whatley et al., DE-NOVO MUTATION AND SPORADIC PRESENTATION OF ACUTE INTERMITTENT PORPHYRIA, Lancet, 346(8981), 1995, pp. 1007-1008
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