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Results: 1-13 |
Results: 13
IDENTIFICATION OF 6 MUTATIONS (R31L, 441DELA, 681DELC, 1461INS4, W1089R, E1104X) IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR(CFTR) GENE
Authors: ZIELENSKI J MARKIEWICZ D CHEN HS SCHAPPERT K SELLER A DURIE P COREY M TSUI LC
Citation: J. Zielenski et al., IDENTIFICATION OF 6 MUTATIONS (R31L, 441DELA, 681DELC, 1461INS4, W1089R, E1104X) IN THE CYSTIC-FIBROSIS TRANSMEMBRANE CONDUCTANCE REGULATOR(CFTR) GENE, Human mutation, 5(1), 1995, pp. 43-47
MUTATIONAL ANALYSIS OF SACCHAROMYCES-CEREVISIAE U4 SMALL NUCLEAR-RNA IDENTIFIES FUNCTIONALLY IMPORTANT DOMAINS
Authors: HU J XU DM SCHAPPERT K XU Y FRIESEN JD
Citation: J. Hu et al., MUTATIONAL ANALYSIS OF SACCHAROMYCES-CEREVISIAE U4 SMALL NUCLEAR-RNA IDENTIFIES FUNCTIONALLY IMPORTANT DOMAINS, Molecular and cellular biology, 15(3), 1995, pp. 1274-1285
PYRIDOXINE-RESPONSIVE GYRATE ATROPHY OF THE CHOROID AND RETINA - CLINICAL AND BIOCHEMICAL CORRELATES OF THE MUTATION A226V
Authors: MICHAUD J THOMPSON GN BRODY LC STEEL G OBIE C FONTAINE G SCHAPPERT K KEITH CG VALLE D MITCHELL GA
Citation: J. Michaud et al., PYRIDOXINE-RESPONSIVE GYRATE ATROPHY OF THE CHOROID AND RETINA - CLINICAL AND BIOCHEMICAL CORRELATES OF THE MUTATION A226V, American journal of human genetics, 56(3), 1995, pp. 616-622
IDENTIFICATION OF A GENE FROM XP21 WITH SIMILARITY TO THE TCTEX-1 GENE OF THE MURINE-T COMPLEX
Authors: ROUX AF ROMMENS J MCDOWELL C ANSONCARTWRIGHT L BELL S SCHAPPERT K FISHMAN GA MUSARELLA M
Citation: Af. Roux et al., IDENTIFICATION OF A GENE FROM XP21 WITH SIMILARITY TO THE TCTEX-1 GENE OF THE MURINE-T COMPLEX, Human molecular genetics, 3(2), 1994, pp. 257-263
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
MUTATIONAL ANALYSIS OF THE PRP4 PROTEIN OF SACCHAROMYCES-CEREVISIAE SUGGESTS DOMAIN-STRUCTURE AND SNRNP INTERACTIONS
Authors: HU J XU Y SCHAPPERT K HARRINGTON T WANG A BRAGA R MOGRIDGE J FRIESEN JD
Citation: J. Hu et al., MUTATIONAL ANALYSIS OF THE PRP4 PROTEIN OF SACCHAROMYCES-CEREVISIAE SUGGESTS DOMAIN-STRUCTURE AND SNRNP INTERACTIONS, Nucleic acids research, 22(9), 1994, pp. 1724-1734
A MUTATION IN THE HUMAN RYANODINE RECEPTOR GENE ASSOCIATED WITH CENTRAL CORE DISEASE
Authors: ZHANG YL CHEN HS KHANNA VK DELEON S PHILLIPS MS SCHAPPERT K BRITT BA BROWNELL AKW MACLENNAN DH
Citation: Yl. Zhang et al., A MUTATION IN THE HUMAN RYANODINE RECEPTOR GENE ASSOCIATED WITH CENTRAL CORE DISEASE, Nature genetics, 5(1), 1993, pp. 46-50
A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE (VOL 2, PG 901, 1993)
Authors: ROMMENS JM LIN B HUTCHINSON GB ANDREW SE GOLDBERG YP GLAVES ML GRAHAM R LAI V MCARTHUR J NASIR J THEILMANN J MCDONALD H KALCHMAN M CLARKE LA SCHAPPERT K HAYDEN MR
Citation: Jm. Rommens et al., A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE (VOL 2, PG 901, 1993), Human molecular genetics, 2(9), 1993, pp. 1524-1524
A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE
Authors: ROMMENS JM LIN B HUTCHINSON GB ANDREW SE GOLDBERG YP GLAVES ML GRAHAM R LAI V MCARTHUR J NASIR J THEILMANN J MCDONALD H KALCHMAN M CLARKE LA SCHAPPERT K HAYDEN MR
Citation: Jm. Rommens et al., A TRANSCRIPTION MAP OF THE REGION CONTAINING THE HUNTINGTON DISEASE GENE, Human molecular genetics, 2(7), 1993, pp. 901-907
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
CHROMOSOMAL LOCALIZATION OF THE HUMAN GENE ENCODING THE 51-KDA SUBUNIT OF MITOCHONDRIAL COMPLEX-I (NDUFV1) TO 11Q13
Authors: ALI ST DUNCAN AMV SCHAPPERT K HENG HHQ TSUI LC CHOW W ROBINSON BH
Citation: St. Ali et al., CHROMOSOMAL LOCALIZATION OF THE HUMAN GENE ENCODING THE 51-KDA SUBUNIT OF MITOCHONDRIAL COMPLEX-I (NDUFV1) TO 11Q13, Genomics, 18(2), 1993, pp. 435-439
MOLECULAR-CLONING OF THE CDNA AND CHROMOSOMAL LOCALIZATION OF THE GENE FOR A PUTATIVE 7-TRANSMEMBRANE SEGMENT (7-TMS) RECEPTOR ISOLATED FROM HUMAN SPLEEN
Authors: FEDERSPPIEL B MELHADO IG DUNCAN AMV DELANEY A SCHAPPERT K CLARKLEWIS I JIRIK FR
Citation: B. Federsppiel et al., MOLECULAR-CLONING OF THE CDNA AND CHROMOSOMAL LOCALIZATION OF THE GENE FOR A PUTATIVE 7-TRANSMEMBRANE SEGMENT (7-TMS) RECEPTOR ISOLATED FROM HUMAN SPLEEN, Genomics, 16(3), 1993, pp. 707-712
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
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