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Results: 1-16 |
Results: 16
3 SPLICING DEFECTS, AN INSERTION, AND 2 MISSENSE MUTATIONS RESPONSIBLE FOR ACUTE INTERMITTENT PORPHYRIA
Authors: MUSTAJOKI S PIHLAJA H AHOLA H PETERSEN NE MUSTAJOKI P KAUPPINEN R
Citation: S. Mustajoki et al., 3 SPLICING DEFECTS, AN INSERTION, AND 2 MISSENSE MUTATIONS RESPONSIBLE FOR ACUTE INTERMITTENT PORPHYRIA, Human genetics, 102(5), 1998, pp. 541-548
EVALUATION OF A CLINICALLY APPLICABLE MUTATION SCREENING TECHNIQUE FOR GENETIC DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA AND FAMILIAL DEFECTIVE APOLIPOPROTEIN-B
Authors: NISSEN H HANSEN AB GULDBERG P HANSEN TS PETERSEN NE HORDER M
Citation: H. Nissen et al., EVALUATION OF A CLINICALLY APPLICABLE MUTATION SCREENING TECHNIQUE FOR GENETIC DIAGNOSIS OF FAMILIAL HYPERCHOLESTEROLEMIA AND FAMILIAL DEFECTIVE APOLIPOPROTEIN-B, Clinical genetics, 53(6), 1998, pp. 433-439
MUTATION SCREENING BY DENATURING GRADIENT GEL-ELECTROPHORESIS IN NORTH-AMERICAN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
Authors: PETERSEN NE NISSEN H HORDER M SENZ J JAMANI A SCHREIBER WE
Citation: Ne. Petersen et al., MUTATION SCREENING BY DENATURING GRADIENT GEL-ELECTROPHORESIS IN NORTH-AMERICAN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA, Clinical chemistry, 44(8), 1998, pp. 1766-1768
DENATURING GRADIENT GEL-ELECTROPHORESIS DETECTS MUTATIONS IN MOST NORTH-AMERICAN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA
Authors: SCHREIBER WE SENZ J JAMANI A PETERSEN NE NISSEN H HORDER M
Citation: We. Schreiber et al., DENATURING GRADIENT GEL-ELECTROPHORESIS DETECTS MUTATIONS IN MOST NORTH-AMERICAN PATIENTS WITH ACUTE INTERMITTENT PORPHYRIA, Clinical chemistry, 44, 1998, pp. 137-137
MYOSIN HEAVY-CHAIN MESSENGER-RNA TRANSFORM TO FASTER ISOFORMS IN IMMOBILIZED SKELETAL-MUSCLE - A QUANTITATIVE PCR STUDY
Authors: JANKALA H HARJOLA VP PETERSEN NE HARKONEN M
Citation: H. Jankala et al., MYOSIN HEAVY-CHAIN MESSENGER-RNA TRANSFORM TO FASTER ISOFORMS IN IMMOBILIZED SKELETAL-MUSCLE - A QUANTITATIVE PCR STUDY, Journal of applied physiology, 82(3), 1997, pp. 977-982
DIAGNOSTIC STRATEGY, GENETIC DIAGNOSIS AND IDENTIFICATION OF NEW MUTATIONS IN INTERMITTENT PORPHYRIA BY DENATURING GRADIENT GEL-ELECTROPHORESIS
Authors: NISSEN H PETERSEN NE MUSTAJOKI S HANSEN TS MUSTAJOKI P KAUPPINEN R HORDER M
Citation: H. Nissen et al., DIAGNOSTIC STRATEGY, GENETIC DIAGNOSIS AND IDENTIFICATION OF NEW MUTATIONS IN INTERMITTENT PORPHYRIA BY DENATURING GRADIENT GEL-ELECTROPHORESIS, Human mutation, 9(2), 1997, pp. 122-130
LIPOPROTEIN-LIPASE GENE POLYMORPHISM AND LIPOPROTEIN-LIPASE ACTIVITY IN PATIENTS WITH PREVIOUS ACUTE MYOCARDIAL-INFARCTION OR NON-INSULIN-DEPENDENT DIABETES-MELLITUS
Authors: HENRIKSEN FL ROHOLD A KROGH LN NISSEN H PETERSEN NE BECKNIELSEN H HORDER M
Citation: Fl. Henriksen et al., LIPOPROTEIN-LIPASE GENE POLYMORPHISM AND LIPOPROTEIN-LIPASE ACTIVITY IN PATIENTS WITH PREVIOUS ACUTE MYOCARDIAL-INFARCTION OR NON-INSULIN-DEPENDENT DIABETES-MELLITUS, Atherosclerosis, 134(1-2), 1997, pp. 25-25
DETECTING MUTATIONS IN THE LIPOPROTEIN-LIPASE GENE - ESTABLISHMENT AND TESTING OF A SCREENING METHOD
Authors: KROGH LN HENRIKSEN FL NISSEN H PETERSEN NE HORDER M
Citation: Ln. Krogh et al., DETECTING MUTATIONS IN THE LIPOPROTEIN-LIPASE GENE - ESTABLISHMENT AND TESTING OF A SCREENING METHOD, Atherosclerosis, 134(1-2), 1997, pp. 26-26
DETECTION AND CHARACTERIZATION OF A NOVEL SPLICE MUTATION IN THE LDL RECEPTOR INTRON-12 RESULTING IN 2 DIFFERENT MUTANT MESSENGER-RNA VARIANTS
Authors: NISSEN H HANSEN AB GULDBERG P PETERSEN NE HANSEN TS HORDER M
Citation: H. Nissen et al., DETECTION AND CHARACTERIZATION OF A NOVEL SPLICE MUTATION IN THE LDL RECEPTOR INTRON-12 RESULTING IN 2 DIFFERENT MUTANT MESSENGER-RNA VARIANTS, Atherosclerosis, 128(1), 1997, pp. 75-83
CLINICALLY APPLICABLE MUTATION SCREENING IN FAMILIAL HYPERCHOLESTEROLEMIA
Authors: NISSEN H GULDBERG P HANSEN AB PETERSEN NE HORDER M
Citation: H. Nissen et al., CLINICALLY APPLICABLE MUTATION SCREENING IN FAMILIAL HYPERCHOLESTEROLEMIA, Human mutation, 8(2), 1996, pp. 168-177
PHENOTYPIC PRESENTATION OF THE FH-CINCINNATI TYPE 5 LOW-DENSITY-LIPOPROTEIN RECEPTOR MUTATION
Authors: NISSEN H HANSEN AB GULDBERG P PETERSEN NE LARSEN ML HAGHFELT T KRISTIANSEN K HORDER M
Citation: H. Nissen et al., PHENOTYPIC PRESENTATION OF THE FH-CINCINNATI TYPE 5 LOW-DENSITY-LIPOPROTEIN RECEPTOR MUTATION, Scandinavian journal of clinical & laboratory investigation, 56(1), 1996, pp. 75-85
R325X MUTATION IN EXON-15 OF THE HYDROXYMETHYLBILANE SYNTHASE GENE IDENTIFIED IN 2 DANISH FAMILIES WITH ACUTE INTERMITTENT PORPHYRIA
Authors: PETERSEN NE NISSEN H HANSEN TS RASMUSSEN K BROCK A HORDER M
Citation: Ne. Petersen et al., R325X MUTATION IN EXON-15 OF THE HYDROXYMETHYLBILANE SYNTHASE GENE IDENTIFIED IN 2 DANISH FAMILIES WITH ACUTE INTERMITTENT PORPHYRIA, Clinical chemistry, 42(1), 1996, pp. 106-107
ROBUST NONRADIOACTIVE OLIGONUCLEOTIDE LIGATION ASSAY TO DETECT A COMMON POINT MUTATION IN THE CYP2D6 GENE CAUSING ABNORMAL DRUG-METABOLISM
Authors: HANSEN TS PETERSEN NE IITIA A BLAABJERG O HYLTOFTPETERSEN P HORDER M
Citation: Ts. Hansen et al., ROBUST NONRADIOACTIVE OLIGONUCLEOTIDE LIGATION ASSAY TO DETECT A COMMON POINT MUTATION IN THE CYP2D6 GENE CAUSING ABNORMAL DRUG-METABOLISM, Clinical chemistry, 41(3), 1995, pp. 413-418
IMPROVED RNASE PROTECTION ASSAY FOR QUANTIFYING LDL-RECEPTOR MESSENGER-RNA - ESTIMATION OF ANALYTICAL IMPRECISION AND BIOLOGICAL VARIANCE IN PERIPHERAL-BLOOD MONONUCLEAR-CELLS
Authors: PETERSEN NE LARSEN LK NISSEN H JENSEN LG JENSEN A PETERSEN PH HORDER M GREGERSEN N KRISTIANSEN K
Citation: Ne. Petersen et al., IMPROVED RNASE PROTECTION ASSAY FOR QUANTIFYING LDL-RECEPTOR MESSENGER-RNA - ESTIMATION OF ANALYTICAL IMPRECISION AND BIOLOGICAL VARIANCE IN PERIPHERAL-BLOOD MONONUCLEAR-CELLS, Clinical chemistry, 41(11), 1995, pp. 1605-1613
GENETIC DIAGNOSIS WITH THE DENATURING GRADIENT GEL-ELECTROPHORESIS TECHNIQUE IMPROVES DIAGNOSTIC PRECISION IN FAMILIAL HYPERCHOLESTEROLEMIA
Authors: NISSEN H HANSEN AB GULDBERG P PETERSEN NE LARSEN ML HAGHFELT T KRISTIANSEN K HORDER M
Citation: H. Nissen et al., GENETIC DIAGNOSIS WITH THE DENATURING GRADIENT GEL-ELECTROPHORESIS TECHNIQUE IMPROVES DIAGNOSTIC PRECISION IN FAMILIAL HYPERCHOLESTEROLEMIA, Circulation, 91(6), 1995, pp. 1641-1646
DETECTION OF A SINGLE-BASE DELETION IN CODON-424 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN A DANISH FAMILY WITH FAMILIAL HYPERCHOLESTEROLEMIA
Authors: NISSEN H HANSEN AB GULDBERG P PETERSEN NE LARSEN ML HAGHFELT T KRISTIANSEN K HORDER M
Citation: H. Nissen et al., DETECTION OF A SINGLE-BASE DELETION IN CODON-424 OF THE LOW-DENSITY-LIPOPROTEIN RECEPTOR GENE IN A DANISH FAMILY WITH FAMILIAL HYPERCHOLESTEROLEMIA, Atherosclerosis, 111(2), 1994, pp. 209-215
Risultati: 1-16 |