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Academic Journal

[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].

  • Authors : Hara K; Department of Neurology, Akita Red Cross Hospital.; Ouchi H

Subjects: Dystonia*/Dystonia*/Dystonia*/genetics ; Dystonia*/Dystonia*/Dystonia*/diagnosis ; Dystonic Disorders*/Dystonic Disorders*/Dystonic Disorders*/genetics

  • Source: Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2022 Nov 26; Vol. 62 (11), pp. 856-859. Date of Electronic Publication: 2022 Oct 26.Publisher: Nihon Shinkei Gakkai Country of Publication: Japan NLM ID: 0417466 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Clinical significance of detecting human leukocyte antigen class I allele-lacking leukocytes in aplastic anemia].

  • Authors : Hosokawa K; Department of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University.; Nakao S

Subjects: Anemia, Aplastic*/Anemia, Aplastic*/Anemia, Aplastic*/therapy ; Hemoglobinuria, Paroxysmal*/Hemoglobinuria, Paroxysmal*/Hemoglobinuria, Paroxysmal*/complications ; Hemoglobinuria, Paroxysmal*/Hemoglobinuria, Paroxysmal*/Hemoglobinuria, Paroxysmal*/genetics

  • Source: [Rinsho ketsueki] The Japanese journal of clinical hematology [Rinsho Ketsueki] 2022; Vol. 63 (8), pp. 899-905.Publisher: Japan Society Of Clinical Hematology Country of Publication: Japan NLM ID: 2984782R Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Immune-mediated thrombotic thrombocytopenic purpura and susceptible HLA alleles].

  • Authors : Sakai K; Department of Blood Transfusion Medicine, Nara Medical University.

Subjects: Purpura, Thrombotic Thrombocytopenic*/Purpura, Thrombotic Thrombocytopenic*/Purpura, Thrombotic Thrombocytopenic*/genetics; Alleles ; Disease Susceptibility/Disease Susceptibility/Disease Susceptibility/complications

  • Source: [Rinsho ketsueki] The Japanese journal of clinical hematology [Rinsho Ketsueki] 2022; Vol. 63 (4), pp. 277-285.Publisher: Japan Society Of Clinical Hematology Country of Publication: Japan NLM ID: 2984782R Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Evaluation of the correlation between JAK2V617F allele burden by Quenching Probe-Tm method and allele-specific quantitative PCR method].

  • Authors : Yamada S; Department of Hematology, Kawasaki Medical School.; Kondo T

Subjects: Myeloproliferative Disorders*/Myeloproliferative Disorders*/Myeloproliferative Disorders*/diagnosis ; Myeloproliferative Disorders*/Myeloproliferative Disorders*/Myeloproliferative Disorders*/genetics ; Polycythemia Vera*/Polycythemia Vera*/Polycythemia Vera*/genetics

  • Source: [Rinsho ketsueki] The Japanese journal of clinical hematology [Rinsho Ketsueki] 2022; Vol. 63 (1), pp. 1-2.Publisher: Japan Society Of Clinical Hematology Country of Publication: Japan NLM ID: 2984782R Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[A case of inflammatory cerebral amyloid angiopathy with white matter lesions appearing after brain biopsy].

Subjects: Biopsy/Biopsy/Biopsy/*adverse effects ; Cerebral Amyloid Angiopathy/Cerebral Amyloid Angiopathy/Cerebral Amyloid Angiopathy/*etiology ; Leukoencephalopathies/Leukoencephalopathies/Leukoencephalopathies/*etiology

  • Source: Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2021 Mar 25; Vol. 61 (3), pp. 188-193. Date of Electronic Publication: 2021 Feb 23.Publisher: Nihon Shinkei Gakkai Country of Publication: Japan NLM ID: 0417466 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

[A loss-of-function mutation in exon1 of limited HLA class I alleles is common in patients with aplastic anemia].

  • Authors : Mizumaki H; Department of Hematology, Faculty of Medicine, Institute of Medical Pharmaceutical and Health Sciences, Kanazawa University.; Department of Internal Medicine, Keiju Kanazawa Hospital.

Subjects: Anemia, Aplastic*/Anemia, Aplastic*/Anemia, Aplastic*/genetics; Alleles ; Humans

  • Source: [Rinsho ketsueki] The Japanese journal of clinical hematology [Rinsho Ketsueki] 2021; Vol. 62 (4), pp. 270-277.Publisher: Japan Society Of Clinical Hematology Country of Publication: Japan NLM ID: 2984782R Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Importance of HLA in Determining Individual Differences in the Onset of Adverse Drug Reactions].

  • Authors : Aoki S; Laboratory of Biopharmaceutics, Graduate School of Pharmaceutical Sciences, Chiba University.

Subjects: Individuality*; Drug Hypersensitivity/Drug Hypersensitivity/Drug Hypersensitivity/*genetics ; Drug Hypersensitivity/Drug Hypersensitivity/Drug Hypersensitivity/*immunology

  • Source: Yakugaku zasshi : Journal of the Pharmaceutical Society of Japan [Yakugaku Zasshi] 2021; Vol. 141 (8), pp. 1001-1007.Publisher: Nihon Yakugakkai Country of Publication: Japan NLM ID: 0413613 Publication Model: Print Cited Medium: Internet ISSN: 1347-5231

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Academic Journal

[Advances in research for pathogenesis of paroxysmal nocturnal hemoglobinuria].

  • Authors : Murakami Y; Research Institute for Microbial Diseases, Osaka University.

Subjects: Hemoglobinuria, Paroxysmal*/Hemoglobinuria, Paroxysmal*/Hemoglobinuria, Paroxysmal*/genetics; Alleles ; Glycosylphosphatidylinositols/Glycosylphosphatidylinositols/Glycosylphosphatidylinositols/genetics

  • Source: [Rinsho ketsueki] The Japanese journal of clinical hematology [Rinsho Ketsueki] 2021; Vol. 62 (8), pp. 944-953.Publisher: Japan Society Of Clinical Hematology Country of Publication: Japan NLM ID: 2984782R Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

[Genetic Analysis of Alzheimer's Disease: The Impact of Rare Variants and Their Significance].

  • Authors : Miyashita A; Department of Molecular Genetics, Brain Research Institute, Niigata University.; Liu L

Subjects: Genetic Predisposition to Disease*; Alzheimer Disease/Alzheimer Disease/Alzheimer Disease/*genetics; ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/ATP-Binding Cassette Transporters/genetics

  • Source: Brain and nerve = Shinkei kenkyu no shinpo [Brain Nerve] 2019 Oct; Vol. 71 (10), pp. 1071-1079.Publisher: igaku Shoin Country of Publication: Japan NLM ID: 101299709 Publication Model: Print Cited Medium: Print ISSN: 1881-6096 (Print)

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Academic Journal

[Genetic Creutzfeldt-Jakob disease with a glutamate-to-lysine substitution at codon 219 (E219K) in the presence of the E200K mutation presenting with rapid progressive dementia following slowly progressive clinical course].

Subjects: Amino Acid Substitution/Amino Acid Substitution/Amino Acid Substitution/*genetics ; Codon/Codon/Codon/*genetics ; Creutzfeldt-Jakob Syndrome/Creutzfeldt-Jakob Syndrome/Creutzfeldt-Jakob Syndrome/*diagnosis

  • Source: Rinsho shinkeigaku = Clinical neurology [Rinsho Shinkeigaku] 2018 Nov 28; Vol. 58 (11), pp. 682-687. Date of Electronic Publication: 2018 Oct 27.Publisher: Nihon Shinkei Gakkai Country of Publication: Japan NLM ID: 0417466 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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  • 1-10 of  243 results for ""Alleles""