AAAAAA

   
Results: 1-22 |
Results: 22
3 NEW FHH MUTATIONS AND 8 GENETIC-VARIANTS IN THE CALCIUM SENSING RECEPTOR (CASR) GENE
Authors: BOMAN H LOVLIE R KNAPPSKOG PM
Citation: H. Boman et al., 3 NEW FHH MUTATIONS AND 8 GENETIC-VARIANTS IN THE CALCIUM SENSING RECEPTOR (CASR) GENE, European journal of human genetics, 6, 1998, pp. 4114-4114
DOMAIN-STRUCTURE AND STABILITY OF HUMAN PHENYLALANINE-HYDROXYLASE INFERRED FROM INFRARED-SPECTROSCOPY
Authors: CHEHIN R THOROLFSSON M KNAPPSKOG PM MARTINEZ A FLATMARK T ARRONDO JLR MUGA A
Citation: R. Chehin et al., DOMAIN-STRUCTURE AND STABILITY OF HUMAN PHENYLALANINE-HYDROXYLASE INFERRED FROM INFRARED-SPECTROSCOPY, FEBS letters, 422(2), 1998, pp. 225-230
PARTIAL CHARACTERIZATION AND 3-DIMENSIONAL STRUCTURAL LOCALIZATION OF8 MUTATIONS IN EXON-7 OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE ASSOCIATED WITH PHENYLKETONURIA
Authors: BJORGO E KNAPPSKOG PM MARTINEZ A STEVENS RC FLATMARK T
Citation: E. Bjorgo et al., PARTIAL CHARACTERIZATION AND 3-DIMENSIONAL STRUCTURAL LOCALIZATION OF8 MUTATIONS IN EXON-7 OF THE HUMAN PHENYLALANINE-HYDROXYLASE GENE ASSOCIATED WITH PHENYLKETONURIA, European journal of biochemistry, 257(1), 1998, pp. 1-10
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
COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME
Authors: WATERS PJ HEWSON AS SCRIVER CR TREACY EP MARTINEZ A KNAPPSKOG PM PARNIAK MA
Citation: Pj. Waters et al., COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE A104D MUTANT, ASSOCIATED WITH VARIANT PHENYLKETONURIA, AND WILD-TYPE ENZYME, Biochemical Society transactions, 25(2), 1997, pp. 362-362
EFFECT OF MUTATIONS AT CYS(237) ON THE ACTIVATION STATE AND ACTIVITY OF HUMAN PHENYLALANINE-HYDROXYLASE
Authors: KNAPPSKOG PM MARTINEZ A
Citation: Pm. Knappskog et A. Martinez, EFFECT OF MUTATIONS AT CYS(237) ON THE ACTIVATION STATE AND ACTIVITY OF HUMAN PHENYLALANINE-HYDROXYLASE, FEBS letters, 409(1), 1997, pp. 7-11
CRYSTALLIZATION AND PRELIMINARY DIFFRACTION ANALYSIS OF A TRUNCATED HOMODIMER OF HUMAN PHENYLALANINE-HYDROXYLASE
Authors: ERLANDSEN H MARTINEZ A KNAPPSKOG PM HAAVIK J HOUGH E FLATMARK T
Citation: H. Erlandsen et al., CRYSTALLIZATION AND PRELIMINARY DIFFRACTION ANALYSIS OF A TRUNCATED HOMODIMER OF HUMAN PHENYLALANINE-HYDROXYLASE, FEBS letters, 406(1-2), 1997, pp. 171-174
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
RECESSIVELY INHERITED L-DOPA-RESPONSIVE PARKINSONISM IN INFANCY CAUSED BY A POINT MUTATION (L205P) IN THE TYROSINE-HYDROXYLASE GENE
Authors: LUDECKE B KNAPPSKOG PM CLAYTON PT SURTEES RAH CLELLAND JD HEALES SJR BRAND MP BARTHOLOME K FLATMARK T
Citation: B. Ludecke et al., RECESSIVELY INHERITED L-DOPA-RESPONSIVE PARKINSONISM IN INFANCY CAUSED BY A POINT MUTATION (L205P) IN THE TYROSINE-HYDROXYLASE GENE, Human molecular genetics, 5(7), 1996, pp. 1023-1028
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
COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE (PAH) A104D MUTANT,ASSOCIATED WITH VARIANT PHENYLKETONURIA (PKU) AND WILD-TYPE ENZYME
Authors: WATERS PJ HEWSON AS SCRIVER CR MARTINEZ A KNAPPSKOG PM PARNIAK MA
Citation: Pj. Waters et al., COMPARATIVE-ANALYSIS OF PHENYLALANINE-HYDROXYLASE (PAH) A104D MUTANT,ASSOCIATED WITH VARIANT PHENYLKETONURIA (PKU) AND WILD-TYPE ENZYME, Immunology, 89, 1996, pp. 377-377
STRUCTURE FUNCTION RELATIONSHIPS IN HUMAN PHENYLALANINE-HYDROXYLASE -EFFECT OF TERMINAL DELETIONS ON THE OLIGOMERIZATION, ACTIVATION AND COOPERATIVITY OF SUBSTRATE-BINDING TO THE ENZYME/
Authors: KNAPPSKOG PM FLATMARK T AARDEN JM HAAVIK J MARTINEZ A
Citation: Pm. Knappskog et al., STRUCTURE FUNCTION RELATIONSHIPS IN HUMAN PHENYLALANINE-HYDROXYLASE -EFFECT OF TERMINAL DELETIONS ON THE OLIGOMERIZATION, ACTIVATION AND COOPERATIVITY OF SUBSTRATE-BINDING TO THE ENZYME/, European journal of biochemistry, 242(3), 1996, pp. 813-821
NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE LEADINGTO COMPLETE LOSS OF ENZYMATIC-ACTIVITY
Authors: DIANZANI I KNAPPSKOG PM DESANCTIS L GIANNATTASIO S RIVA E PONZONE A APOLD J CAMASCHELLA C
Citation: I. Dianzani et al., NOVEL MISSENSE MUTATION IN THE PHENYLALANINE-HYDROXYLASE GENE LEADINGTO COMPLETE LOSS OF ENZYMATIC-ACTIVITY, Human mutation, 6(3), 1995, pp. 247-249
RECESSIVELY INHERITED L-DOPA-RESPONSIVE DYSTONIA CAUSED BY A POINT MUTATION (Q381K) IN THE TYROSINE-HYDROXYLASE GENE
Authors: KNAPPSKOG PM FLATMARK T MALLET J LUDECKE B BARTHOLOME K
Citation: Pm. Knappskog et al., RECESSIVELY INHERITED L-DOPA-RESPONSIVE DYSTONIA CAUSED BY A POINT MUTATION (Q381K) IN THE TYROSINE-HYDROXYLASE GENE, Human molecular genetics, 4(7), 1995, pp. 1209-1212
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
TRYPTOPHAN FLUORESCENCE OF HUMAN PHENYLALANINE-HYDROXYLASE PRODUCED IN ESCHERICHIA-COLI
Authors: KNAPPSKOG PM HAAVIK J
Citation: Pm. Knappskog et J. Haavik, TRYPTOPHAN FLUORESCENCE OF HUMAN PHENYLALANINE-HYDROXYLASE PRODUCED IN ESCHERICHIA-COLI, Biochemistry, 34(37), 1995, pp. 11790-11799
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: 1-22 |