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Results: 1-15 |
Results: 15
10 NOVEL MUTATIONS OF THE ORNITHINE TRANSCARBAMYLASE (OTC) GENE IN OTC DEFICIENCY
Authors: SHIMADZU M MATSUMOTO H MATSUURA T KOBAYASHI K KOMAKI S KIWAKI K HOSHIDE R ENDO F SAHEKI T MATSUDA I
Citation: M. Shimadzu et al., 10 NOVEL MUTATIONS OF THE ORNITHINE TRANSCARBAMYLASE (OTC) GENE IN OTC DEFICIENCY, Human mutation, 1998, pp. 5-7
Y55D MUTATION IN ORNITHINE TRANSCARBAMYLASE ASSOCIATED WITH LATE-ONSET HYPERAMMONEMIA IN A MALE
Authors: NISHIYORI A YOSHINO M TANANARI Y MATSUURA T HOSHIDE R MASTUDA I MORI M KATO H
Citation: A. Nishiyori et al., Y55D MUTATION IN ORNITHINE TRANSCARBAMYLASE ASSOCIATED WITH LATE-ONSET HYPERAMMONEMIA IN A MALE, Human mutation, 1998, pp. 131-133
THE R40H MUTATION IN A LATE-ONSET TYPE OF HUMAN ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN MALE-PATIENTS
Authors: NISHIYORI A YOSHINO M KATO H MATSUURA T HOSHIDE R MATSUDA I KUNO T MIYAZAKI S HIROSE S KUROMARU R MORI M
Citation: A. Nishiyori et al., THE R40H MUTATION IN A LATE-ONSET TYPE OF HUMAN ORNITHINE TRANSCARBAMYLASE DEFICIENCY IN MALE-PATIENTS, Human genetics, 99(2), 1997, pp. 171-176
FAMILIAL LETHAL INHERITANCE OF A MUTATED PATERNAL GENE IN FEMALES CAUSING X-LINKED ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY
Authors: KOMAKI S MATSUURA T OYANAGI K HOSHIDE R KIWAKI K ENDO F SHIMADZU M MATSUDA I
Citation: S. Komaki et al., FAMILIAL LETHAL INHERITANCE OF A MUTATED PATERNAL GENE IN FEMALES CAUSING X-LINKED ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY, American journal of medical genetics, 69(2), 1997, pp. 177-181
MOLECULAR-CLONING, TISSUE DISTRIBUTION, AND CHROMOSOMAL LOCALIZATION OF HUMAN CATIONIC AMINO-ACID TRANSPORTER-2 (HCAT2)
Authors: HOSHIDE R IKEDA Y KARASHIMA S MATSUURA T KOMAKI S KISHINO T NIIKAWA N ENDO F MATSUDA I
Citation: R. Hoshide et al., MOLECULAR-CLONING, TISSUE DISTRIBUTION, AND CHROMOSOMAL LOCALIZATION OF HUMAN CATIONIC AMINO-ACID TRANSPORTER-2 (HCAT2), Genomics, 38(2), 1996, pp. 174-178
PRENATAL MONITORING IN A FAMILY AT HIGH-RISK FOR ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY - A NEW MUTATION OF AN A-TO-C TRANSVERSION IN POSITION--1 OF THE OTC GENE THAT IS LIKELY TO ABOLISH ENZYME-ACTIVITY(4 OF INTRON)
Authors: HOSHIDE R MATSUURA T SAGARA Y KUBO T SHIMADZU M ENDO F MATSUDA I
Citation: R. Hoshide et al., PRENATAL MONITORING IN A FAMILY AT HIGH-RISK FOR ORNITHINE TRANSCARBAMYLASE (OTC) DEFICIENCY - A NEW MUTATION OF AN A-TO-C TRANSVERSION IN POSITION--1 OF THE OTC GENE THAT IS LIKELY TO ABOLISH ENZYME-ACTIVITY(4 OF INTRON), American journal of medical genetics, 64(3), 1996, pp. 459-464
PHENOTYPIC VARIABILITY IN MALE-PATIENTS CARRYING THE MUTANT ORNITHINETRANSCARBAMYLASE (OTC) ALLELE, ARG40HIS, RANGING FROM A CHILD WITH ANUNFAVORABLE PROGNOSIS TO AN ASYMPTOMATIC OLDER ADULT
Authors: MATSUDA I MATSUURA T NISHIYORI A KOMAKI S HOSHIDE R MATSUMOTO T FUNAKOSHI M KIWAKI K ENDO F HATA A SHIMADZU M YOSHINO M
Citation: I. Matsuda et al., PHENOTYPIC VARIABILITY IN MALE-PATIENTS CARRYING THE MUTANT ORNITHINETRANSCARBAMYLASE (OTC) ALLELE, ARG40HIS, RANGING FROM A CHILD WITH ANUNFAVORABLE PROGNOSIS TO AN ASYMPTOMATIC OLDER ADULT, Journal of Medical Genetics, 33(8), 1996, pp. 645-648
ASSIGNMENT OF THE HUMAN CARBAMYL-PHOSPHATE SYNTHETASE-I GENE (CPS1) TO 2Q35 BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: HOSHIDE R SOEJIMA H OHTA T NIIKAWA N HARAGUCHI Y MATSUURA T ENDO F MATSUDA I
Citation: R. Hoshide et al., ASSIGNMENT OF THE HUMAN CARBAMYL-PHOSPHATE SYNTHETASE-I GENE (CPS1) TO 2Q35 BY FLUORESCENCE IN-SITU HYBRIDIZATION, Genomics, 28(1), 1995, pp. 124-125
IDENTIFICATION OF 2 NEW ABERRANT SPLICINGS IN THE ORNITHINE CARBAMOYLTRANSFERASE (OCT) GENE IN 2 PATIENTS WITH EARLY AND LATE-ONSET OCT DEFICIENCY
Authors: MATSUURA T HOSHIDE R KOMAKI S KIWAKI K ENDO F NAKAMURA S JITOSHO T MATSUDA I
Citation: T. Matsuura et al., IDENTIFICATION OF 2 NEW ABERRANT SPLICINGS IN THE ORNITHINE CARBAMOYLTRANSFERASE (OCT) GENE IN 2 PATIENTS WITH EARLY AND LATE-ONSET OCT DEFICIENCY, Journal of inherited metabolic disease, 18(3), 1995, pp. 273-282
4 NEWLY IDENTIFIED ORNITHINE TRANSCARBAMYLASE (OTC) MUTATIONS (D126G,R129H, I172M AND W332X) IN JAPANESE MALE-PATIENTS WITH EARLY-ONSET OTC DEFICIENCY
Authors: MATSUURA T HOSHIDE R KIWAKI K KOMAKI S KOIKE E ENDO F OYANAGI K SUZUKI Y KATO I ISHIKAWA K YODA H KAMITANI S SAKAKI Y MATSUDA I
Citation: T. Matsuura et al., 4 NEWLY IDENTIFIED ORNITHINE TRANSCARBAMYLASE (OTC) MUTATIONS (D126G,R129H, I172M AND W332X) IN JAPANESE MALE-PATIENTS WITH EARLY-ONSET OTC DEFICIENCY, Human mutation, 3(4), 1994, pp. 402-406
FOR NOVEL GENE-MUTATIONS IN 5 JAPANESE MALE-PATIENTS WITH NEONATAL ORLATE-ONSET OTC DEFICIENCY - APPLICATION OF PCR-SINGLE-STRAND CONFORMATION POLYMORPHISMS FOR ALL EXONS AND ADJACENT INTRONS (VOL 92, PG 49, 1993)
Authors: MATSUURA T HOSHIDE R SETOYAMA C SHIMADA K HASE Y YANAGAWA T KAJITA M MATSUDA I
Citation: T. Matsuura et al., FOR NOVEL GENE-MUTATIONS IN 5 JAPANESE MALE-PATIENTS WITH NEONATAL ORLATE-ONSET OTC DEFICIENCY - APPLICATION OF PCR-SINGLE-STRAND CONFORMATION POLYMORPHISMS FOR ALL EXONS AND ADJACENT INTRONS (VOL 92, PG 49, 1993), Human genetics, 93(5), 1994, pp. 613-613
EXPRESSION OF 4 MUTANT HUMAN ORNITHINE TRANSCARBAMYLASE GENES IN CULTURED COS-1 CELLS RELATES TO CLINICAL PHENOTYPES
Authors: MATSUURA T HOSHIDE R SETOYAMA C KOMAKI S KIWAKI K ENDO F NISHIKAWA S MATSUDA I
Citation: T. Matsuura et al., EXPRESSION OF 4 MUTANT HUMAN ORNITHINE TRANSCARBAMYLASE GENES IN CULTURED COS-1 CELLS RELATES TO CLINICAL PHENOTYPES, Human genetics, 93(2), 1994, pp. 129-134
FOR NOVEL GENE-MUTATIONS IN 5 JAPANESE MALE-PATIENTS WITH NEONATAL ORLATE-ONSET OTC DEFICIENCY - APPLICATION OF PCR-SINGLE-STRAND CONFORMATION POLYMORPHISMS FOR ALL EXONS AND ADJACENT INTRONS
Authors: MATSUURA T HOSHIDE R SETOYAMA C SHIMADA K HASE Y YANAGAWA T KAJITA M MATSUDA I
Citation: T. Matsuura et al., FOR NOVEL GENE-MUTATIONS IN 5 JAPANESE MALE-PATIENTS WITH NEONATAL ORLATE-ONSET OTC DEFICIENCY - APPLICATION OF PCR-SINGLE-STRAND CONFORMATION POLYMORPHISMS FOR ALL EXONS AND ADJACENT INTRONS, Human genetics, 92(1), 1993, pp. 49-56
SPECIFICITY OF PCR-SSCP FOR DETECTION OF THE MUTANT ORNITHINE TRANSCARBAMYLASE (OTC) GENE IN PATIENTS WITH OTC DEFICIENCY
Authors: HOSHIDE R MATSUURA T KOMAKI S KOIKE E UENO I MATSUDA I
Citation: R. Hoshide et al., SPECIFICITY OF PCR-SSCP FOR DETECTION OF THE MUTANT ORNITHINE TRANSCARBAMYLASE (OTC) GENE IN PATIENTS WITH OTC DEFICIENCY, Journal of inherited metabolic disease, 16(5), 1993, pp. 857-862
CARBAMYL-PHOSPHATE SYNTHETASE-I DEFICIENCY - ONE BASE SUBSTITUTION INAN EXON OF THE CPS-I GENE CAUSES A 9-BASEPAIR DELETION DUE TO ABERRANT SPLICING
Authors: HOSHIDE R MATSUURA T HARAGUCHI Y ENDO F YOSHINAGA M MATSUDA I
Citation: R. Hoshide et al., CARBAMYL-PHOSPHATE SYNTHETASE-I DEFICIENCY - ONE BASE SUBSTITUTION INAN EXON OF THE CPS-I GENE CAUSES A 9-BASEPAIR DELETION DUE TO ABERRANT SPLICING, The Journal of clinical investigation, 91(5), 1993, pp. 1884-1887
Risultati: 1-15 |