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J-GLOBAL ID:201102259867350989   Reference number:11A1640813

同一家系内の遺伝性血管性浮腫の2例

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Material:
Volume: 18  Issue:Page: 633-637  Publication year: Oct. 01, 2011 
JST Material Number: L2745A  ISSN: 1340-7988  Document type: Article
Article type: 原著論文  Country of issue: Japan (JPN)  Language: JAPANESE (JA)
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Treatment for congenital diseases,deformities.  ,  Drug therapy(=pharmacotherapy)for hematologic diseases in general 
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Reference (16):
  • OSLER, W. Hereditary angio-neurotic oedema. Am J Med Sci. 1888, 95, 362-367
  • NZEAKO, UC. Hereditary angioedema : a broad review for clinicians. Arch Intern Med. 2001, 161, 2417-2429
  • DONALDSON, VH. A biochemical abnormality in hereditary angioneurotic edema : absence of serum inhibitor of C'1-esterase. Am J Med. 1963, 35, 37-44
  • KALMAR, L. HAEdb : a novel interactive, locus-specific mutation database for the C1 inhibitor gene. Hum Mutat. 2005, 25, 1-5
  • PAPPALARDO, E. Frequent de novo mutations and exon deletions in the Clinhibitor gene of patients with angioedema. J Allergy Clin Immunol. 2000, 106, 1147-1154
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