Alpha-1 Antitrypsin Deficiency with Severe Pulmonary Emphysema

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概要

• 論文の詳細を見る

• Alpha-1 antitrypsin (AAT) deficiency is a hereditary disorder characterized by an early onset of emphysema. While this disease is common in the Caucasian population, it is quite rare in Japan. To date, only 15 traits have been reported and it can be speculated that many cases of this genetic deficiency may have been overlooked. We report an additional case of AAT deficiency with severe emphysema that is genetically determined as Siiyama variant by allele-specific polymerase chain reaction (PCR) analysis.

• 社団法人　日本内科学会の論文
• 2004-03-01

著者

• MORITA Yutaka

  Natural/Applied Sciences Division, Graduate School of Humanities and Sciences, Ochanomizu University

• SAITO AKIRA

  Department of Pediatrics, Hirosaki University School of Medicine

• SATO Makoto

  Department of Applid Chemistry, Graduate School of Engineering, Tohoku University

• Suzuki Kenji

  Department Of Applied Physics Osaka University

• Suzuki Kenji

  Department Of Respiratory Medicine Graduate School Of Medicine University Of Tokyo

• Takizawa Hajime

  Department Of Dermatology Teikyo University School Of Medicine

• Takizawa Hajime

  Department Of Respiratory Medicine Graduate School Of Medicine University Of Tokyo

• Nukiwa Toshihiro

  Department Of Respiratory Medicine Division Of Cancer Control Institute Of Development Aging And Can

• Morita Yutaka

  Department Of Obstetrics And Gynecology Itabashi Chuo Medical Center

• Nukiwa Toshihiro

  Department Of Respiratory Oncology And Molecular Medicine Institute Of Development Aging And Cancer

• MIYATA Tadayuki

  Department of Respiratory Medicine, Graduate School of Medicine, University of Tokyo

• TAZAWA Tatsuyuki

  Department of Respiratory Oncology and Molecular Medicine, Institute of Development, Aging and Cance

• Tazawa Tatsuyuki

  Department Of Respiratory Oncology And Molecular Medicine Institute Of Development Aging And Cancer

• Morita Yutaka

  Department Of Respiratory Medicine Graduate School Of Medicine University Of Tokyo

• Miyata Tadayuki

  Department Of Respiratory Medicine Graduate School Of Medicine University Of Tokyo

• Saito Akira

  Department Of Pathology Juntendo University Urayasu Hospital

• Suzuki Kenji

  Department Of Anesthesia Kitakami Saiseikai Hospital

• Sato Makoto

  Department Of Respiratory Medicine Graduate School Of Medicine University Of Tokyo

• Sato Makoto

  Department Of Applid Chemistry Graduate School Of Engineering Tohoku University

• Saito Akira

  Department Of Neurosurgery Nagahama Red Cross Hospital

• Saito Akira

  Department of Biological Chemistry, Yamaguchi University

• Saito Akira

  Department of Applied and Bioapplied Chemistry, Graduate School of Engineering, Osaka City University

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