A Japanese Case of Familial Mediterranean Fever with Family History Demonstrating a Mutation in MEFV
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概要
- 論文の詳細を見る
We describe a 17-year-old woman with a family history of FMF who suffered from recurrent fever accompanied by pains in the left chest and abdomen. During a five-year period she experienced attacks about once every six months. The metaraminol provocative test was positive. Genomic DNA extracted from peripheral blood lymphocytes from both her and her parents were analyzed by polymerase chain reaction (PCR), followed by cycle sequencing. We detected a mutation (ATG to ATA) in codon 694 in exon 10 of the FMF gene, MEFV, that resulted in a substitution of isoleucine for methionine (M694I) in both her and her father. This is the first Japanese case of FMF with a mutation in MEFV identified in the family history.(Internal Medicine 42: 761-764, 2003)
- 社団法人 日本内科学会の論文
- 2003-08-01
著者
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Hishida Akira
First Department Of Medicine Hamamatsu University School Of Medicine
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HISHIDA Akira
the First Departments of Internal Medicine, Hamamatsu University School of Medicine
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Hishida Akira
The First Department Of Medicine Hamamatsu University School Of Medicine
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KATAOKA Hideki
Department of Gastroenterology, Seirei Hamamatsu General Hospital
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Kataoka Hideki
The First Department Of Medicine Hamamatsu University School Of Medicine
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Kajimura Masayoshi
The First Department Of Medicine Hamamatsu University School Of Medicine
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Yoshida Ken-ichi
The First Department Of Medicine Hamamatsu University School Of Medicine
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Sano Munetaka
The First Department Of Medicine Hamamatsu University School Of Medicine
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KANAOKA Shigeru
the First Department of Medicine, Hamamatsu University School of Medicine
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TAKAHIRA Kenichiro
the First Department of Medicine, Hamamatsu University School of Medicine
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OSAWA Satoshi
the First Department of Medicine, Hamamatsu University School of Medicine
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Osawa Satoshi
First Department Of Medicine Hamamatsu University School Of Medicine
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Kanaoka Shigeru
First Department Of Medicine Hamamatsu University School Of Medicine
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Takahira Kenichiro
The First Department Of Medicine Hamamatsu University School Of Medicine
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HISHIDA Akira
the First Department of Internal Medicine, Hamamatsu University School of Medicine
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