A Family with Hereditary Protein C Deficiency and Brachydactyly Type A3
スポンサーリンク
概要
- 論文の詳細を見る
We diagnosed a patient with deep vein thrombosis with congenital type Ⅱprotain C deficiency from the mutation in the C-terminal part of the propeptide encoded by exon 3 whose mutation has already been reported and all of the other affected members of protein C deficiency had also shortening of the midphalanx of the little fingers, brachymesophalangia-5, type A3 of the midphalanx of the little fingers, brachmesophalangia-5, type A3 of brachydactyly. These two abnormalities are co-transmitted by a mechanism which remains tobe determined.
- Yamaguchi University Graduate School of Medicineの論文
著者
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Taguchi Akihiko
山口県立総合医療センター
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Taguchi A
Yamaguchi Prefecture Central Hospital Yamaguchi Jpn
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Sakuragi Shizu
Department of Internal Medicine, Yamaguchi Prefecture General Hospital
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Miyazaki Mutsuko
Department of Internal Medicine, Yamaguchi Prefecture General Hospital
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NAKAMORI Yoshitaka
Division of Hematology, Department of Medicine, Yamaguchi Prefecture Central Hospital
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Miyazaki Mutsuko
Department Of Internal Medicine Yamaguchi Prefecture General Hospital
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Shinohara Kenji
Division Of Hematology Department Of Medicine
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Sakuragi Shizu
Department Of Internal Medicine Yamaguchi Prefecture General Hospital
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Taguchi Akihiko
Department Of Internal Medicine Yamaguchi Prefecture General Hospital
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