Molecular genetic analysis and mutation screening of the vhl gene in a Japanese family with von hippel-lindau disease
スポンサーリンク
概要
- 論文の詳細を見る
Von Hippel-Lindau (VHL) disease is an autosomal dominantly inherited familial cancer syndrome which predisposes individuals to a variety of malignant and benign tumors. Its penetrance is almost 100% by 61-70 years of age. We have identified a germline mutation in the VHL gene of a Japanese male patient with a retinal hemangioma in the left eye, an intracranial hemangioblastoma, a left renal tumor and bilateral pheochromocytomas. Screening for the mutation was performed in all members of the patient's family at risk for VHL disease. The mutation identified in the patient was a missense mutation at codon 238 (CGG to CAG). The elder daughter, who did not show any clinical symptoms, was found to carry the same mutation. In order to detect and treat tumors in VHL patients at an earlier stage, it is necessary to identify and screen for the VHL gene mutation in all family members known at risk.
- 神戸大学の論文
著者
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NISHIO Hisahide
Department of Genetic Epidemiology, Graduate School of Medicine, Kobe University
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Sumino Kimiaki
Department of Public Health,Kobe University School of Medicine
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Sumino Kimiaki
Department Of Public Health Kobe University Graduate School Of Medicine
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AYAKI Hitoshi
Department of Public Health, Kobe University Graduate School of Medicine
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OGAWA TAKAYOSHI
Department of Urology, Himeji Red Cross Hospital
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Nishio Hisahide
Department Of Public Health Kobe University School Of Medicine
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Nishio Hisahide
Department Of Environmental Medicine Kobe University
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Wu Yuan
神戸大学 医系研究 公衆衛生
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Ayaki Hitoshi
Department Of Public Health Kobe University School Of Medicine
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Ogawa Takayoshi
Department Of Urology Himeji Red Cross Hospital
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Wu Yuan
Department of Public Health, Kobe University School of Medicine
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Hayashi Aakifumi
Department of Urology, Himeji Red Cross Hospital
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Ooba Takeshi
Department of Urology, Himeji Red Cross Hospital
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Ooba Takeshi
Department Of Urology Himeji Red Cross Hospital
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Hayashi Aakifumi
Department Of Urology Himeji Red Cross Hospital
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Wu Yuan
Department Of Cell Biology And Municipal Laboratory For Liver Protection And Regulation Of Regenerat
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NISHIO Hisahide
Department of Community Medicine and Social Healthcare Science, Kobe University Graduate School of Medicine
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SUMINO KIMIAKI
Department of Public Health, Kobe University School of Medicine
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