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Results: 1-25 | 26-50
Results: 1-25/50
MUTATION DETECTION AND MUTATION DATABASES
Authors: COTTON RGH
Citation: Rgh. Cotton, MUTATION DETECTION AND MUTATION DATABASES, CLINICAL CHEMISTRY AND LABORATORY MEDICINE, 36(8), 1998, pp. 519-522
DIHYDROPTERIDINE REDUCTASE DEFICIENCY - PHYSICAL STRUCTURE OF THE QDPR GENE, IDENTIFICATION OF 2 NEW MUTATIONS AND GENOTYPE-PHENOTYPE CORRELATIONS
Authors: DIANZANI I DESANCTIS L SMOOKER PM GOUGH TJ ALLIAUDI C BRUSCO A SPADA M BLAU N DOBOS M ZHANG HP YANG N PONZONE A ARMAREGO WLF COTTON RGH
Citation: I. Dianzani et al., DIHYDROPTERIDINE REDUCTASE DEFICIENCY - PHYSICAL STRUCTURE OF THE QDPR GENE, IDENTIFICATION OF 2 NEW MUTATIONS AND GENOTYPE-PHENOTYPE CORRELATIONS, Human mutation, 12(4), 1998, pp. 267-273
PROOF OF DISEASE-CAUSING MUTATION
Authors: COTTON RGH SCRIVER CR
Citation: Rgh. Cotton et Cr. Scriver, PROOF OF DISEASE-CAUSING MUTATION, Human mutation, 12(1), 1998, pp. 1-3
CHEMICAL CLEAVAGE OF MISMATCH - A NEW LOOK AT AN ESTABLISHED METHOD
Authors: ELLIS TP HUMPHREY KE SMITH MJ COTTON RGH
Citation: Tp. Ellis et al., CHEMICAL CLEAVAGE OF MISMATCH - A NEW LOOK AT AN ESTABLISHED METHOD, Human mutation, 11(5), 1998, pp. 345-353
STRUCTURE FUNCTION ANALYSIS OF THE DOMAINS REQUIRED FOR THE MULTIMERIZATION OF PHENYLALANINE-HYDROXYLASE/
Authors: HUFTON SE JENNINGS IG COTTON RGH
Citation: Se. Hufton et al., STRUCTURE FUNCTION ANALYSIS OF THE DOMAINS REQUIRED FOR THE MULTIMERIZATION OF PHENYLALANINE-HYDROXYLASE/, Biochimica et biophysica acta. Protein structure and molecular enzymology, 1382(2), 1998, pp. 295-304
THE HUGO MUTATION DATABASE INITIATIVE (VOL 279, PG 10, 1998)
Authors: COTTON RGH
Citation: Rgh. Cotton, THE HUGO MUTATION DATABASE INITIATIVE (VOL 279, PG 10, 1998), Science, 279(5353), 1998, pp. 969-969
THE HUGO MUTATION DATABASE INITIATIVE
Authors: COTTON RGH MCKUSICK V SCRIVER CR
Citation: Rgh. Cotton et al., THE HUGO MUTATION DATABASE INITIATIVE, Science, 279(5347), 1998, pp. 10-11
REGULATION AND CRYSTALLIZATION OF PHOSPHORYLATED AND DEPHOSPHORYLATEDFORMS OF TRUNCATED DIMERIC PHENYLALANINE-HYDROXYLASE
Authors: KOBE B JENNINGS IG HOUSE CM FEIL SC MICHELL BJ TIGANIS T PARKER MW COTTON RGH KEMP BE
Citation: B. Kobe et al., REGULATION AND CRYSTALLIZATION OF PHOSPHORYLATED AND DEPHOSPHORYLATEDFORMS OF TRUNCATED DIMERIC PHENYLALANINE-HYDROXYLASE, Protein science, 6(6), 1997, pp. 1352-1357
MOLECULAR ANALYSIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY - IDENTIFICATION OF 2 NOVEL MUTATIONS IN JAPANESE PATIENTS
Authors: IKEDA H MATSUBARA Y MIKAMI H KURE S OWADA M GOUGH T SMOOKER PM DOBBS M DAHL HHM COTTON RGH NARISAWA K
Citation: H. Ikeda et al., MOLECULAR ANALYSIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY - IDENTIFICATION OF 2 NOVEL MUTATIONS IN JAPANESE PATIENTS, Human genetics, 100(5-6), 1997, pp. 637-642
SLOWLY BUT SURELY TOWARDS BETTER SCANNING FOR MUTATIONS (VOL 13, PG 43, 1997)
Authors: COTTON RGH
Citation: Rgh. Cotton, SLOWLY BUT SURELY TOWARDS BETTER SCANNING FOR MUTATIONS (VOL 13, PG 43, 1997), Trends in genetics, 13(5), 1997, pp. 208-208
SLOWLY BUT SURELY TOWARDS BETTER SCANNING FOR MUTATIONS
Authors: COTTON RGH
Citation: Rgh. Cotton, SLOWLY BUT SURELY TOWARDS BETTER SCANNING FOR MUTATIONS, Trends in genetics, 13(2), 1997, pp. 43-46
ABSENCE OF COMMON TRIFUNCTIONAL PROTEIN MUTATION IN PATIENTS WITH ALPERS-DISEASE
Authors: YANG Z YOUIL R THORBURN D CHOW CW COTTON RGH BALDWIN GS
Citation: Z. Yang et al., ABSENCE OF COMMON TRIFUNCTIONAL PROTEIN MUTATION IN PATIENTS WITH ALPERS-DISEASE, Journal of inherited metabolic disease, 20(6), 1997, pp. 828-830
DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY - BIOCHEMICAL-CHARACTERIZATION OF A NEW MILD MUTATION AND DEFINITION OF THE GENOMIC STRUCTURE OF THE DHPR GENE
Authors: DESANCTIS L ARMAREGO W SMOOKER P GOUGH T BRUSCO A ZHANG HP YANG N PONZONE A COTTON RGH DIANZANI I
Citation: L. Desanctis et al., DIHYDROPTERIDINE REDUCTASE (DHPR) DEFICIENCY - BIOCHEMICAL-CHARACTERIZATION OF A NEW MILD MUTATION AND DEFINITION OF THE GENOMIC STRUCTURE OF THE DHPR GENE, American journal of human genetics, 61(4), 1997, pp. 1452-1452
MUTATION NOMENCLATURE
Authors: COTTON RGH KAZAZIAN HH
Citation: Rgh. Cotton et Hh. Kazazian, MUTATION NOMENCLATURE, Human mutation, 8(3), 1996, pp. 2-2
UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS
Authors: BEAUDET AL ANTONARAKIS SE BEUTLER E COTTON RGH DESNICK RJ KAZAZIAN HH MCALPINE PJ MCKUSICK A MOTULSKY AG SCRIVER CR SHOWS TB TSUI LC VALLE D
Citation: Al. Beaudet et al., UPDATE ON NOMENCLATURE FOR HUMAN GENE-MUTATIONS, Human mutation, 8(3), 1996, pp. 197-202
RAPID DIAGNOSIS OF GERMLINE P53 MUTATION USING THE ENZYME MISMATCH CLEAVAGE METHOD
Authors: GIUNTA C YOUIL R VENTER D CHOW CW SOMERS G LAFFERTY A KEMPER B COTTON RGH
Citation: C. Giunta et al., RAPID DIAGNOSIS OF GERMLINE P53 MUTATION USING THE ENZYME MISMATCH CLEAVAGE METHOD, Diagnostic molecular pathology, 5(4), 1996, pp. 265-270
DETECTION OF 81 OF 81 KNOWN MOUSE BETA-GLOBIN PROMOTER MUTATIONS WITHT4 ENDONUCLEASE-VII - THE EMC METHOD
Authors: YOUIL R KEMPER B COTTON RGH
Citation: R. Youil et al., DETECTION OF 81 OF 81 KNOWN MOUSE BETA-GLOBIN PROMOTER MUTATIONS WITHT4 ENDONUCLEASE-VII - THE EMC METHOD, Genomics, 32(3), 1996, pp. 431-435
SINGLE-TUBE CHEMICAL CLEAVAGE OF MISMATCH - SUCCESSIVE TREATMENT WITHHYDROXYLAMINE AND OSMIUM-TETROXIDE
Authors: RAMUS SJ COTTON RGH
Citation: Sj. Ramus et Rgh. Cotton, SINGLE-TUBE CHEMICAL CLEAVAGE OF MISMATCH - SUCCESSIVE TREATMENT WITHHYDROXYLAMINE AND OSMIUM-TETROXIDE, BioTechniques, 21(2), 1996, pp. 216
TRYPTOPHAN-HYDROXYLASE - PURIFICATION BY AFFINITY-CHROMATOGRAPHY ON CALMODULIN-SEPHAROSE
Authors: DSA C ARTHUR R JENNINGS I COTTON RGH KUHN DM
Citation: C. Dsa et al., TRYPTOPHAN-HYDROXYLASE - PURIFICATION BY AFFINITY-CHROMATOGRAPHY ON CALMODULIN-SEPHAROSE, Journal of neuroscience methods, 69(2), 1996, pp. 149-153
IN-VIVO DISPOSAL OF PHENYLALANINE IN PHENYLKETONURIA - A STUDY OF 2 SIBLINGS
Authors: TREACY E PITT JJ SELLER K THOMPSON GN RAMUS S COTTON RGH
Citation: E. Treacy et al., IN-VIVO DISPOSAL OF PHENYLALANINE IN PHENYLKETONURIA - A STUDY OF 2 SIBLINGS, Journal of inherited metabolic disease, 19(5), 1996, pp. 595-602
PHOSPHORYLATION AND ACTIVATION OF TRYPTOPHAN-HYDROXYLASE BY EXOGENOUSPROTEIN-KINASE-A
Authors: JOHANSEN PA JENNINGS I COTTON RGH KUHN DM
Citation: Pa. Johansen et al., PHOSPHORYLATION AND ACTIVATION OF TRYPTOPHAN-HYDROXYLASE BY EXOGENOUSPROTEIN-KINASE-A, Journal of neurochemistry, 66(2), 1996, pp. 817-823
DETECTION OF UNKNOWN MUTATIONS IN DNA - A CATCH-22
Authors: COTTON RGH
Citation: Rgh. Cotton, DETECTION OF UNKNOWN MUTATIONS IN DNA - A CATCH-22, American journal of human genetics, 59(2), 1996, pp. 289-291
MUTATIONS IVS4NTL, 47DELCT, AND G148S IDENTIFIED IN THE PHENYLALANINE-HYDROXYLASE GENE BY RT-PCR OF ILLEGITIMATE TRANSCRIPTS AND CHEMICAL CLEAVAGE OF MISMATCH
Authors: RAMUS SJ COTTON RGH
Citation: Sj. Ramus et Rgh. Cotton, MUTATIONS IVS4NTL, 47DELCT, AND G148S IDENTIFIED IN THE PHENYLALANINE-HYDROXYLASE GENE BY RT-PCR OF ILLEGITIMATE TRANSCRIPTS AND CHEMICAL CLEAVAGE OF MISMATCH, Human mutation, 6(3), 1995, pp. 250-251
MOLECULAR-BASIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY
Authors: SMOOKER PM COTTON RGH
Citation: Pm. Smooker et Rgh. Cotton, MOLECULAR-BASIS OF DIHYDROPTERIDINE REDUCTASE DEFICIENCY, Human mutation, 5(4), 1995, pp. 279-284
ALLELE-SPECIFIC SEQUENCING
Authors: KALININ VN OLEK K SCHMIDT W COTTON RGH
Citation: Vn. Kalinin et al., ALLELE-SPECIFIC SEQUENCING, Doklady Akademii nauk. Rossijskaa akademia nauk, 343(5), 1995, pp. 692-694
Risultati: 1-25 | 26-50