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首页> Internal medicine (Tokyo, Japan)> Characteristic Clinical Features of Werner Syndrome with a Novel Compound Heterozygous WRN Mutation c.1720+1G>A Plus c.3139-1G>C.

Characteristic Clinical Features of Werner Syndrome with a Novel Compound Heterozygous WRN Mutation c.1720+1G>A Plus c.3139-1G>C.

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作者： Namiko,Matsumoto ^[1] ; Yasuyuki,Ohta ^[2] ; Kentaro,Deguchi ^[1] ; Masayuki,Kishida ^[2] ; Kota,Sato ^[3] ; Jingwei,Shang ^[1] ; Mami,Takemoto ^[1] ; Nozomi,Hishikawa ^[1] ; Toru,Yamashita ^[1] ; Aki,Watanabe ^[1] ; Koutaro,Yokote ^[4] ; Minoru,Takemoto ^[4] ; Junko,Oshima ^[5] ; Koji,Abe ^[6]

作者单位： Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Japan. ^[1] Department of Neurology, Okayama Citizen's Hospital, Japan. ^[2] Department of General Internal Medicine, Okayama Citizen's Hospital, Japan. ^[3] Department of Clinical Cell Biology and Medicine, Graduate School of Medicine, Chiba University, Japan. ^[4] Department of Diabetes, Metabolism and Endocrinology, School of Medicine, International University of Health and Welfare, Japan. ^[5] Department of Pathology, University of Washington, USA. ^[6]

关键词 Japanese compound heterozygous werner syndrome

主题词成年人(Adult);DNA(DNA);DNA突变分析(DNA Mutational Analysis);纯合子(Homozygote);人类(Humans);男(雄)性(Male);突变(Mutation);系谱(Pedigree);表型(Phenotype);维尔纳综合征(Werner Syndrome)

DOI 10.2169/internalmedicine.1816-18

PMID 30568144

发布时间 2020-02-25

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Internal medicine (Tokyo, Japan)

Internal medicine (Tokyo, Japan)

2019年58卷7期

1033-1036页

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