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Results: 1-15 |
Results: 15
INBORN-ERRORS OF KETOGENESIS
Authors: MITCHELL GA WANG SP ASHMARINA L ROBERT MF BOUCHARD G LAURIN N KASSOVSKABRATINOVA S BOUKAFTANE Y
Citation: Ga. Mitchell et al., INBORN-ERRORS OF KETOGENESIS, Biochemical Society transactions, 26(2), 1998, pp. 136-140
HMG COA LYASE DEFICIENCY - IDENTIFICATION OF 5 CAUSAL POINT MUTATIONSIN CODON-41 AND CODON-42, INCLUDING A FREQUENT SAUDI-ARABIAN MUTATION, R41Q
Authors: MITCHELL GA OZAND PT ROBERT MF ASHMARINA L ROBERTS J GIBSON KM WANDERS RJ WANG SP CHEVALIER I PLOCHL E MIZIORKO H
Citation: Ga. Mitchell et al., HMG COA LYASE DEFICIENCY - IDENTIFICATION OF 5 CAUSAL POINT MUTATIONSIN CODON-41 AND CODON-42, INCLUDING A FREQUENT SAUDI-ARABIAN MUTATION, R41Q, American journal of human genetics, 62(2), 1998, pp. 295-300
HORMONE-SENSITIVE LIPASE (LIPE) - SEQUENCE-ANALYSIS OF THE 129SV MOUSE LIPE GENE
Authors: SZTROLOVICS R WANG SP LAPIERRE P CHEN HS ROBERT MF MITCHELL GA
Citation: R. Sztrolovics et al., HORMONE-SENSITIVE LIPASE (LIPE) - SEQUENCE-ANALYSIS OF THE 129SV MOUSE LIPE GENE, Mammalian genome, 8(2), 1997, pp. 86-89
3-HYDROXY-3-METHYLGLUTARYL COA LYASE (HL) - MOUSE AND HUMAN HL GENE (HMGCL) CLONING AND DETECTION OF LARGE GENE DELETIONS IN 2 UNRELATED HL-DEFICIENT PATIENTS
Authors: WANG SP ROBERT MF GIBSON KM WANDERS RJA MITCHELL GA
Citation: Sp. Wang et al., 3-HYDROXY-3-METHYLGLUTARYL COA LYASE (HL) - MOUSE AND HUMAN HL GENE (HMGCL) CLONING AND DETECTION OF LARGE GENE DELETIONS IN 2 UNRELATED HL-DEFICIENT PATIENTS, Genomics, 33(1), 1996, pp. 99-104
CHARACTERIZATION OF THE HYDROXYMETHYLGLUTARYL-COA LYASE PRECURSOR, A PROTEIN TARGETED TO PEROXISOMES AND MITOCHONDRIA
Authors: ASHMARINA LI ROBERT MF ELSLIGER MA MITCHELL GA
Citation: Li. Ashmarina et al., CHARACTERIZATION OF THE HYDROXYMETHYLGLUTARYL-COA LYASE PRECURSOR, A PROTEIN TARGETED TO PEROXISOMES AND MITOCHONDRIA, Biochemical journal, 315, 1996, pp. 71-75
HMG COALYASE (HL) DEFICIENCY IS LETHAL IN THE EMBRYONIC STAGE OF MURINE DEVELOPMENT
Authors: OLIGNY LL VACHON M WANG SP MARTH J ROBERT MF
Citation: Ll. Oligny et al., HMG COALYASE (HL) DEFICIENCY IS LETHAL IN THE EMBRYONIC STAGE OF MURINE DEVELOPMENT, Laboratory investigation, 74(1), 1996, pp. 23-23
SUCCINYL-COA - 3-OXOACID COA TRANSFERASE (SCOT) - HUMAN CDNA CLONING,HUMAN CHROMOSOMAL MAPPING TO 5P13, AND MUTATION DETECTION IN A SCOT-DEFICIENT PATIENT
Authors: KASSOVSKABRATINOVA S FUKAO T SONG XQ DUNCAN AMV CHEN HS ROBERT MF PEREZCERDA C UGARTE M CHARTRAND C VOBECKY S KONDO N MITCHELL GA
Citation: S. Kassovskabratinova et al., SUCCINYL-COA - 3-OXOACID COA TRANSFERASE (SCOT) - HUMAN CDNA CLONING,HUMAN CHROMOSOMAL MAPPING TO 5P13, AND MUTATION DETECTION IN A SCOT-DEFICIENT PATIENT, American journal of human genetics, 59(3), 1996, pp. 519-528
MOLECULAR PRENATAL-DIAGNOSIS OF 3-HYDROXY-3-METHYLGLUTARYL COA LYASE DEFICIENCY
Authors: MITCHELL GA JAKOBS C GIBSON KM ROBERT MF BURLINA A DIONISIVICI C DALLAIRE L
Citation: Ga. Mitchell et al., MOLECULAR PRENATAL-DIAGNOSIS OF 3-HYDROXY-3-METHYLGLUTARYL COA LYASE DEFICIENCY, Prenatal diagnosis, 15(8), 1995, pp. 725-729
MEDICAL ASPECTS OF KETONE-BODY METABOLISM
Authors: MITCHELL GA KASSOVSKABRATINOVA S BOUKAFTANE Y ROBERT MF WANG SP ASHMARINA L LAMBERT M LAPIERRE P POTIER E
Citation: Ga. Mitchell et al., MEDICAL ASPECTS OF KETONE-BODY METABOLISM, Clinical and investigative medicine, 18(3), 1995, pp. 193-216
HMG COA LYASE (HL) - TARGETED GENE DISRUPTION IN MICE CAUSES PRENATALLETHALITY IN HOMOZYGOTES
Authors: WANG SP MARTH J OLIGNY L VACHON M ROBERT MF MITCHELL GA
Citation: Sp. Wang et al., HMG COA LYASE (HL) - TARGETED GENE DISRUPTION IN MICE CAUSES PRENATALLETHALITY IN HOMOZYGOTES, American journal of human genetics, 57(4), 1995, pp. 190-190
HORMONE-SENSITIVE LIPASE MAPS TO PROXIMAL CHROMOSOME-7 IN MICE AND ISGENETICALLY DISTINCT FROM THE AD AND TUB LOCI
Authors: WANG S LAPIERRE P ROBERT MF NADEAU JH MITCHELL GA
Citation: S. Wang et al., HORMONE-SENSITIVE LIPASE MAPS TO PROXIMAL CHROMOSOME-7 IN MICE AND ISGENETICALLY DISTINCT FROM THE AD AND TUB LOCI, Genomics, 24(2), 1994, pp. 416-417
HUMAN MITOCHONDRIAL HMG COA SYNTHASE - LIVER CDNA AND PARTIAL GENOMICCLONING, CHROMOSOME MAPPING TO 1P12-P13, AND POSSIBLE ROLE IN VERTEBRATE EVOLUTION
Authors: BOUKAFTANE Y DUNCAN A WANG SP LABUDA D ROBERT MF SARRAZIN J SCHAPPERT K MITCHELL GA
Citation: Y. Boukaftane et al., HUMAN MITOCHONDRIAL HMG COA SYNTHASE - LIVER CDNA AND PARTIAL GENOMICCLONING, CHROMOSOME MAPPING TO 1P12-P13, AND POSSIBLE ROLE IN VERTEBRATE EVOLUTION, Genomics, 23(3), 1994, pp. 552-559
3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE (HL) - CLONING AND CHARACTERIZATION OF A MOUSE-LIVER HL CDNA AND SUBCHROMOSOMAL MAPPING OF THE HUMAN AND MOUSE HL GENES
Authors: WANG SP NADEAU JH DUNCAN A ROBERT MF FONTAINE G SCHAPPERT K JOHNSON KR ZIETKIEWICZ E HRUZ P MIZIORKO H MITCHELL GA
Citation: Sp. Wang et al., 3-HYDROXY-3-METHYLGLUTARYL COENZYME-A LYASE (HL) - CLONING AND CHARACTERIZATION OF A MOUSE-LIVER HL CDNA AND SUBCHROMOSOMAL MAPPING OF THE HUMAN AND MOUSE HL GENES, Mammalian genome, 4(7), 1993, pp. 382-387
SUCCINYL-COA - 3-KETOACID COA TRANSFERASE (SCOT) - CLONING OF HUMANMYODARD IAL SCOT CDNAS AND SEQUENCE-ANALYSIS
Authors: KASSOVSKABRATINOVA S ROBERT MF WANG S SCHAPPERT K SAUDUBRAY JM CHARTRAND C VOBECKY S MITCHELL G
Citation: S. Kassovskabratinova et al., SUCCINYL-COA - 3-KETOACID COA TRANSFERASE (SCOT) - CLONING OF HUMANMYODARD IAL SCOT CDNAS AND SEQUENCE-ANALYSIS, American journal of human genetics, 53(3), 1993, pp. 910-910
HMG-COA LYASE (HL) - CHARACTERIZATION OF THE HUMAN AND MOUSE GENES AND CONSTRUCTION OF A VECTOR FOR HOMOLOGOUS RECOMBINATION
Authors: WANG S ROBERT MF FONTAINE G MARTH J MITCHELL GA
Citation: S. Wang et al., HMG-COA LYASE (HL) - CHARACTERIZATION OF THE HUMAN AND MOUSE GENES AND CONSTRUCTION OF A VECTOR FOR HOMOLOGOUS RECOMBINATION, American journal of human genetics, 53(3), 1993, pp. 958-958
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