ID | 61514 |
フルテキストURL | |
著者 |
Matsumoto, Namiko
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Ohta, Yasuyuki
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
researchmap
Kishida, Masayuki
Department of General Internal Medicine, Okayama Citizen's Hospital
Sato, Kota
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Shang, Jingwei
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Takemoto, Mami
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
Hishikawa, Nozomi
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
Yamashita, Toru
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
ORCID
Kaken ID
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Watanabe, Aki
Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University
Yokote, Koutaro
Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University
Takemoto, Minoru
Department of Diabetes, Metabolism and Endocrinology, School of Medicine, International University of Health and Welfare
Oshima, Junko
Department of Pathology, University of Washington
Abe, Koji
Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University
Kaken ID
publons
researchmap
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抄録 | Werner syndrome (WS) is an autosomal recessive progeroid disorder caused by mutations in the WRN gene (WRN). Most Japanese WS patients are born from a consanguineous marriage with homozygous WRN mutations. We herein report a rare WS patient born from non-consanguineous parents with compound heterozygous WRN mutations with a novel heterogeneous c.1720+1G>A substitution plus the most frequent heterogeneous c.3139-1G>C substitution among Japanese. Although the present case showed clinical characteristics common to previous Japanese WS patients, he had not developed any malignant tumors as of 43 years of age, suggesting that WS patients with this particular genetic mutation have a different phenotype than others.
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キーワード | werner syndrome
compound heterozygous
Japanese
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発行日 | 2019-04-01
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出版物タイトル |
Internal Medicine
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巻 | 58巻
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号 | 7号
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出版者 | Japanese Society of Internal Medicine
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開始ページ | 1033
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終了ページ | 1036
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ISSN | 0918-2918
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NCID | AA10827774
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資料タイプ |
学術雑誌論文
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言語 |
英語
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OAI-PMH Set |
岡山大学
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著作権者 | © 2019 by The Japanese Society of Internal Medicine
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論文のバージョン | publisher
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PubMed ID | |
DOI | |
Web of Science KeyUT | |
関連URL | isVersionOf https://doi.org/10.2169/internalmedicine.1816-18
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