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Publications by Nobuaki Wakamatsu

Molecular Analysis of HPRT Deficiencies: Six Novel Mutations and the Spectrum of Asian Mutations

Gout and Nucleic Acid Metabolism

English

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Molecular Basis of Familial Adenomatous Polyposis in the Southeast of Brazil: Identification of Six Novel Mutations

International Journal of Biological Markers

Cancer Research

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Sengers Syndrome: Six Novel AGK Mutations in Seven New Families and Review of the Phenotypic and Mutational Spectrum of 29 Patients

Orphanet Journal of Rare Diseases

English

CFTR Mutations Spectrum and the Efficiency of Molecular Diagnostics in Polish Cystic Fibrosis Patients

Multidisciplinary

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Three Novel Mutations of Antithrombin Inducing High-Molecular-Mass Compounds

Arteriosclerosis and Thrombosis: A Journal of Vascular Biology

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Expanding the Spectrum of IDH1 Mutations in Gliomas

Modern Pathology

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HPRT Mutations in Lymphocytes From 1,3-Butadiene-Exposed Workers in China

Environmental Health Perspectives

Occupational Health

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Rubinstein-Taybi 2 Associated to Novel EP300 Mutations: Deepening the Clinical and Genetic Spectrum

BMC Medical Genetics

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Spectrum of Β-Thalassemia Mutations in Punjabis

International Journal of Human Genetics

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The Clinical Spectrum of Thyrotropin Receptor Gene (TSHR) Mutations

English