AAAAAA

   
Results: 1-21 |
Results: 21
CONSTANT DENATURANT GEL-ELECTROPHORESIS (CDGE) IN BRCA1 MUTATION SCREENING
Authors: ANDERSEN TI EIKEN HG COUCH F KAADA G SKREDE M JOHNSEN H ALOYSIUS TA TVEIT KM TRANEBJAERG L DORUM A MOLLER P WEBER BL BORRESENDALE AL
Citation: Ti. Andersen et al., CONSTANT DENATURANT GEL-ELECTROPHORESIS (CDGE) IN BRCA1 MUTATION SCREENING, Human mutation, 11(2), 1998, pp. 166-174
PHENYLKETONURIA SPLICE MUTATION (EXON6NT-96A-]G) MASQUERADING AS MISSENSE MUTATION (Y204C)
Authors: ELLINGSEN S KNAPPSKOG PM EIKEN HG
Citation: S. Ellingsen et al., PHENYLKETONURIA SPLICE MUTATION (EXON6NT-96A-]G) MASQUERADING AS MISSENSE MUTATION (Y204C), Human mutation, 9(1), 1997, pp. 88-90
INCREASED P-32 SSCP SENSITIVITY BY COMBINING RE DIGESTION AND EXTENDED X-RAY-FILM EXPOSURES
Authors: LOVLIE R EIKEN HG
Citation: R. Lovlie et Hg. Eiken, INCREASED P-32 SSCP SENSITIVITY BY COMBINING RE DIGESTION AND EXTENDED X-RAY-FILM EXPOSURES, BioTechniques, 22(4), 1997, pp. 598
PHENYLKETONURIA AND THE PEOPLES OF NORTHERN-IRELAND
Authors: ZSCHOCKE J MALLORY JP EIKEN HG NEVIN NC
Citation: J. Zschocke et al., PHENYLKETONURIA AND THE PEOPLES OF NORTHERN-IRELAND, Human genetics, 100(2), 1997, pp. 189-194
PITUITARY DWARFISM IN THE R271W PIT-1 GENE MUTATION
Authors: AARSKOG D EIKEN HG BJERKNES R MYKING OL
Citation: D. Aarskog et al., PITUITARY DWARFISM IN THE R271W PIT-1 GENE MUTATION, European journal of pediatrics, 156(11), 1997, pp. 829-834
PKU MUTATION (D143G) ASSOCIATED WITH AN APPARENT HIGH RESIDUAL ENZYME-ACTIVITY - EXPRESSION OF A KINETIC VARIANT FORM OF PHENYLALANINE-HYDROXYLASE IN 3 DIFFERENT SYSTEMS
Authors: KNAPPSKOG PM EIKEN HG MARTINEZ A BRULAND O APOLD J FLATMARK T
Citation: Pm. Knappskog et al., PKU MUTATION (D143G) ASSOCIATED WITH AN APPARENT HIGH RESIDUAL ENZYME-ACTIVITY - EXPRESSION OF A KINETIC VARIANT FORM OF PHENYLALANINE-HYDROXYLASE IN 3 DIFFERENT SYSTEMS, Human mutation, 8(3), 1996, pp. 236-246
DGGE ANALYSIS AS SUPPLEMENT TO SSCP ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE - DETECTION OF 8 (ONE DE-NOVO, 7 INHERITED) OF 9 REMAINING NORWEGIAN PKU MUTATIONS
Authors: EIKEN HG KNAPPSKOG PM GULDBERG P APOLD J
Citation: Hg. Eiken et al., DGGE ANALYSIS AS SUPPLEMENT TO SSCP ANALYSIS OF THE PHENYLALANINE-HYDROXYLASE GENE - DETECTION OF 8 (ONE DE-NOVO, 7 INHERITED) OF 9 REMAINING NORWEGIAN PKU MUTATIONS, Human mutation, 8(1), 1996, pp. 19-22
PKU MUTATION G46S IS ASSOCIATED WITH INCREASED AGGREGATION AND DEGRADATION OF THE PHENYLALANINE-HYDROXYLASE ENZYME
Authors: EIKEN HG KNAPPSKOG PM APOLD J FLATMARK T
Citation: Hg. Eiken et al., PKU MUTATION G46S IS ASSOCIATED WITH INCREASED AGGREGATION AND DEGRADATION OF THE PHENYLALANINE-HYDROXYLASE ENZYME, Human mutation, 7(3), 1996, pp. 228-238
RELATIVE FREQUENCY, HETEROGENEITY AND GEOGRAPHIC CLUSTERING OF PKU MUTATIONS IN NORWAY
Authors: EIKEN HG KNAPPSKOG PM BOMAN H THUNE KS KAADA G MOTZFELDT K APOLD J
Citation: Hg. Eiken et al., RELATIVE FREQUENCY, HETEROGENEITY AND GEOGRAPHIC CLUSTERING OF PKU MUTATIONS IN NORWAY, European journal of human genetics, 4(4), 1996, pp. 205-213
LACK OF GENETIC-VARIATION IN THE CODING REGION OF THE MYOINOSITOL MONOPHOSPHATASE GENE IN LITHIUM-TREATED PATIENTS WITH MANIC-DEPRESSIVE ILLNESS
Authors: STEEN VM GULBRANDSEN AK EIKEN HG BERLE JO
Citation: Vm. Steen et al., LACK OF GENETIC-VARIATION IN THE CODING REGION OF THE MYOINOSITOL MONOPHOSPHATASE GENE IN LITHIUM-TREATED PATIENTS WITH MANIC-DEPRESSIVE ILLNESS, Pharmacogenetics, 6(1), 1996, pp. 113-116
THE CA2-SENSING RECEPTOR GENE (PCAR1) MUTATION T151M IN ISOLATED AUTOSOMAL-DOMINANT HYPOPARATHYROIDISM()
Authors: LOVLIE R EIKEN HG SORHEIM JI BOMAN H
Citation: R. Lovlie et al., THE CA2-SENSING RECEPTOR GENE (PCAR1) MUTATION T151M IN ISOLATED AUTOSOMAL-DOMINANT HYPOPARATHYROIDISM(), Human genetics, 98(2), 1996, pp. 129-133
MUTATIONS IN THE IDURONATE-2-SULFATASE GENE IN 5 NORWEGIANS WITH HUNTER SYNDROME
Authors: OLSEN TC EIKEN HG KNAPPSKOG PM KASE BF MANSSON JE BOMAN H APOLD J
Citation: Tc. Olsen et al., MUTATIONS IN THE IDURONATE-2-SULFATASE GENE IN 5 NORWEGIANS WITH HUNTER SYNDROME, Human genetics, 97(2), 1996, pp. 198-203
PHENYLKETONURIA GENOTYPES CORRELATED TO METABOLIC PHENOTYPE GROUPS INNORWAY
Authors: EIKEN HG KNAPPSKOG PM MOTZFELDT K BOMAN H APOLD J
Citation: Hg. Eiken et al., PHENYLKETONURIA GENOTYPES CORRELATED TO METABOLIC PHENOTYPE GROUPS INNORWAY, European journal of pediatrics, 155(7), 1996, pp. 554-560
MUTATION ANALYSIS BY SSCP OF MYOINOSITOL MONOPHOSPHATASE-CODING CDNA FROM LITHIUM-TREATED PATIENTS WITH BIPOLAR MANIC-DEPRESSIVE ILLNESS
Authors: STEEN VM GULBRANDSEN AK EIKEN HG BERLE JO
Citation: Vm. Steen et al., MUTATION ANALYSIS BY SSCP OF MYOINOSITOL MONOPHOSPHATASE-CODING CDNA FROM LITHIUM-TREATED PATIENTS WITH BIPOLAR MANIC-DEPRESSIVE ILLNESS, Psychopharmacology, 118(2), 1995, pp. 8-8
THE PKU MUTATION S349P CAUSES COMPLETE LOSS OF CATALYTIC ACTIVITY IN THE RECOMBINANT PHENYLALANINE-HYDROXYLASE ENZYME
Authors: KNAPPSKOG PM EIKEN HG MARTINEZ A FLATMARK T APOLD J
Citation: Pm. Knappskog et al., THE PKU MUTATION S349P CAUSES COMPLETE LOSS OF CATALYTIC ACTIVITY IN THE RECOMBINANT PHENYLALANINE-HYDROXYLASE ENZYME, Human genetics, 95(2), 1995, pp. 171-173
EXPRESSION OF RECOMBINANT HUMAN PHENYLALANINE-HYDROXYLASE AS FUSION PROTEIN IN ESCHERICHIA-COLI CIRCUMVENTS PROTEOLYTIC DEGRADATION BY HOST-CELL PROTEASES - ISOLATION AND CHARACTERIZATION OF THE WILD-TYPE ENZYME
Authors: MARTINEZ A KNAPPSKOG PM OLAFSDOTTIR S DOSKELAND AP EIKEN HG SVEBAK RM BOZZINI M APOLD J FLATMARK T
Citation: A. Martinez et al., EXPRESSION OF RECOMBINANT HUMAN PHENYLALANINE-HYDROXYLASE AS FUSION PROTEIN IN ESCHERICHIA-COLI CIRCUMVENTS PROTEOLYTIC DEGRADATION BY HOST-CELL PROTEASES - ISOLATION AND CHARACTERIZATION OF THE WILD-TYPE ENZYME, Biochemical journal, 306, 1995, pp. 589-597
RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS
Authors: EISENSMITH RC GOLTSOV AA ONEILL C TYFIELD LA SCHWARTZ EI KUZMIN AI BARANOVSKAYA SS TSUKERMAN GL TREACY E SCRIVER CR GUTTLER F GULDBERG P EIKEN HG APOLD J SVENSSON E NAUGHTEN E CAHALANE SF CROKE DT COCKBURN F WOO SLC
Citation: Rc. Eisensmith et al., RECURRENCE OF THE R408W MUTATION IN THE PHENYLALANINE-HYDROXYLASE LOCUS IN EUROPEANS, American journal of human genetics, 56(1), 1995, pp. 278-286
394DELTT - A NORDIC CYSTIC-FIBROSIS MUTATION
Authors: SCHWARTZ M ANVRET M CLAUSTRES M EIKEN HG EIKLID K SCHAEDEL C STOLPE L TRANEBJAERG L
Citation: M. Schwartz et al., 394DELTT - A NORDIC CYSTIC-FIBROSIS MUTATION, Human genetics, 93(2), 1994, pp. 157-161
THE PHENYLKETONURIA G272X HAPLOTYPE-7 MUTATION IN EUROPEAN POPULATIONS
Authors: APOLD J EIKEN HG SVENSSON E KUNERT E KOZAK L CECHAK P GUTTLER F GILTAY J LICHTERKONECKI U MELLE D JARUZELSKA JM
Citation: J. Apold et al., THE PHENYLKETONURIA G272X HAPLOTYPE-7 MUTATION IN EUROPEAN POPULATIONS, Human genetics, 92(2), 1993, pp. 107-109
FREQUENCY OF THE DELTA-F508-MUTATIONS AND EXON-11-MUTATIONS IN NORWEGIAN CYSTIC-FIBROSIS PATIENTS
Authors: EIKLID K TRANEBJAERG L EIKEN HG PEDERSEN JC MICHALSEN H FLUGE G SCHWARTZ M NILSEN BR BOLLE R SKYBERG D BOMAN H BERG K
Citation: K. Eiklid et al., FREQUENCY OF THE DELTA-F508-MUTATIONS AND EXON-11-MUTATIONS IN NORWEGIAN CYSTIC-FIBROSIS PATIENTS, Clinical genetics, 44(1), 1993, pp. 12-14
PKU MUTATION-R408Q AND MUTATION-F299C IN NORWAY - HAPLOTYPE ASSOCIATIONS, GEOGRAPHIC DISTRIBUTIONS AND PHENOTYPE CHARACTERISTICS
Authors: EIKEN HG STANGELAND K SKJELKVALE L KNAPPSKOG PM BOMAN H APOLD J
Citation: Hg. Eiken et al., PKU MUTATION-R408Q AND MUTATION-F299C IN NORWAY - HAPLOTYPE ASSOCIATIONS, GEOGRAPHIC DISTRIBUTIONS AND PHENOTYPE CHARACTERISTICS, Human genetics, 88(6), 1992, pp. 608-612
Risultati: 1-21 |