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Results: 1-5 |
Results: 5
HEMATOLOGICAL ABNORMALITIES AND CHOLESTATIC LIVER-DISEASE IN 2 PATIENTS WITH MEVALONATE KINASE-DEFICIENCY
Authors: HINSON DD ROGERS ZR HOFFMANN GF SCHACHTELE M FINGERHUT R KOHLSCHUTTER A KELLEY RI GIBSON KM
Citation: Dd. Hinson et al., HEMATOLOGICAL ABNORMALITIES AND CHOLESTATIC LIVER-DISEASE IN 2 PATIENTS WITH MEVALONATE KINASE-DEFICIENCY, American journal of medical genetics, 78(5), 1998, pp. 408-412
2 EXON-SKIPPING MUTATIONS AS THE MOLECULAR-BASIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA)
Authors: CHAMBLISS KL HINSON DD TRETTEL F MALASPINA P NOVELLETTO A JAKOBS C GIBSON KM
Citation: Kl. Chambliss et al., 2 EXON-SKIPPING MUTATIONS AS THE MOLECULAR-BASIS OF SUCCINIC SEMIALDEHYDE DEHYDROGENASE-DEFICIENCY (4-HYDROXYBUTYRIC ACIDURIA), American journal of human genetics, 63(2), 1998, pp. 399-408
POSTTRANSLATIONAL REGULATION OF MEVALONATE KINASE BY INTERMEDIATES OFTHE CHOLESTEROL AND NONSTEROL ISOPRENE BIOSYNTHETIC PATHWAYS
Authors: HINSON DD CHAMBLISS KL TOTH MJ TANAKA RD GIBSON KM
Citation: Dd. Hinson et al., POSTTRANSLATIONAL REGULATION OF MEVALONATE KINASE BY INTERMEDIATES OFTHE CHOLESTEROL AND NONSTEROL ISOPRENE BIOSYNTHETIC PATHWAYS, Journal of lipid research, 38(11), 1997, pp. 2216-2223
IDENTIFICATION OF AN ACTIVE-SITE ALANINE IN MEVALONATE KINASE THROUGHCHARACTERIZATION OF A NOVEL MUTATION IN MEVALONATE KINASE-DEFICIENCY
Authors: HINSON DD CHAMBLISS KL HOFFMANN GF KRISANS S KELLER RK GIBSON KM
Citation: Dd. Hinson et al., IDENTIFICATION OF AN ACTIVE-SITE ALANINE IN MEVALONATE KINASE THROUGHCHARACTERIZATION OF A NOVEL MUTATION IN MEVALONATE KINASE-DEFICIENCY, The Journal of biological chemistry, 272(42), 1997, pp. 26756-26760
MOLECULAR-CLONING OF THE MATURE NAD(-DEPENDENT SUCCINIC SEMIALDEHYDE DEHYDROGENASE FROM RAT AND HUMAN - CDNA ISOLATION, EVOLUTIONARY HOMOLOGY, AND TISSUE EXPRESSION())
Authors: CHAMBLISS KL CAUDLE DL HINSON DD MOOMAW CR SLAUGHTER CA JAKOBS C GIBSON KM
Citation: Kl. Chambliss et al., MOLECULAR-CLONING OF THE MATURE NAD(-DEPENDENT SUCCINIC SEMIALDEHYDE DEHYDROGENASE FROM RAT AND HUMAN - CDNA ISOLATION, EVOLUTIONARY HOMOLOGY, AND TISSUE EXPRESSION()), The Journal of biological chemistry, 270(1), 1995, pp. 461-467
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