.BETA.+-Thalassemia with Hemochromatosis.
スポンサーリンク
概要
- 論文の詳細を見る
A 64-year-old man was admitted due to ascites. Laboratory data showed hemoglobin 6.7g/dl, mean corpuscular volume 82fl, and ferritin 2, 360ng/ml. Liver biopsy showed hemochromatosis. The diagnosis of β-halassemia was suggested by a decreased ratio of β/α-globin synthesis in vitro (0.26). Cloning of the β-globin gene showed A-to-G mutation in the first base of the ATA box. He was confirmed to be homozygous for this specific allele by β-gene complex analysis and analysis of Southern blot hybridization of the a- and β-globin genes. His two sons were confirmed to be heterozygous for this allele.(Internal Medicine 31 : 1060-1064, 1992)
- 社団法人 日本内科学会の論文
著者
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Marumo Fumiaki
The Second Department of Internal Medicine, Tokyo Medical and Dental University
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Marumo Fumiaki
The Second Department Of Internal Medicine Tokyo Medical And Dental University
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Harano Teruo
The Department Of Biochemistry Kawasaki Medical College
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TAKABE Kazuhiko
the Department of Internal Medicine, Hokushin General Hospital
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MIYAHARA Yasuhiro
the Department of Internal Medicine, Hokushin General Hospital
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UCHIHARA Masakatsu
the Department of Internal Medicine, Hokushin General Hospital
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SATO Chifumi
the Second Department of Internal Medicine, Tokyo Medical and Dental University
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SAKAI Hideki
the Department of Medicine, Hokushin General Hospital
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YAMANE Michio
the Department of Internal Medicine, Hokushin General Hospital
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MAEKAWA Shinya
the Department of Internal Medicine, Hokushin General Hospital
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NOUCHI Toshihiko
the Second Department of Internal Medicine, Tokyo Medical and Dental University
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MAE Sunao
the Department of Internal Medicine, Hokushin General Hospital
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FUKUMA Toshiko
the Department of Internal Medicine, Hokushin General Hospital
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