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遗传出血性毛细血管扩张症的治疗(附一家系25例分析) 被引量:1

Treatment of hereditary hemorrhagic telangiectasia:Analysis of 25 cases from a family
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摘要 遗传出血性毛细血管扩张症为常染色体显性遗传病,临床少见,本文就其病理变化、临床特点进行讨论,探讨其治疗方法。附一家系25例分析。 Hereditary hemorrhagic telangiectasia is an uncommon autosomal dominant inheri-tance disease. 25 cases from a family were reported. The pathology, clinical presenta-tion and treatment were discussed.
出处 《耳鼻咽喉(头颈外科)》 1997年第3期148-150,共3页 Chinese Arch Otolaryngology-Head Neck Surg
关键词 毛细血管扩张 遗传性出血性 治疗 Hereditary diseases Telangiectasia,hereditary hemorrhagic Telangiectasis)
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参考文献1

  • 1林国武,辛茂深,李庆端.消痔灵注射液治疗慢性肥厚性鼻炎[J]实用医学杂志,1992(02).

同被引文献8

  • 1McDonald MT, Papenberg KA, Ghosh S, et al. A disease locus for hereditary hemorrhagic talangiectasia maps to chromosome 9q33~34.Nature Genet, 1994,6:197 - 204.
  • 2McAllister KA, Grogg KM, Johnson DW, et al. Endoglin, a TGF-beta binding protein of endothelial cells, is the gene for hereditary haemorrhagic telangiectasia type 1. Nature Genet, 1994, 8:345 -351.
  • 3Bourdeau A,Dumont DJ, Letarte M. A murine model of hereditary hemorrhagic telangiectasia. J Clin Invest, 1999,104:1343 - 1351.
  • 4Johnson DW, Berg JN, Gallione CJ, et al. A second locus for hereditary hemorrhagic telangiectasia maps to chromosome 12.Genome Res, 1995,5: 21 - 28.
  • 5Johnson DW,Berg JN,Baldwin MA, et al. Mutations in the activin receptor - like kinase 1 gene inhereditary haemorrhagic telangiectasia type 2. Nature Genet, 1996,13:189 - 195.
  • 6Kjeldsen AD, Brusgaard K, Poulsen L, et al. Mutations in the ALK - 1 gene and the phenotype of hereditary hemorrhagic telangiectasia in two large Danish families. Am J Med Genet, 2001,98: 298 - 302.
  • 7Abdalla A, Pece- Barbara N, Vera S, et al. Analysis of ALK - 1 and endoglin in newborns from families with hereditary hemorrhagic telangiectasia type 2. Hum Mol Genet,2000,9:1227- 1237.
  • 8Gallione CJ, Scheessele EA, Reinhardt D, et al. Two common endoglin mutations in families with hereditary hemorrhagic telangiectasia in the Netherlands Antilles: evidence for a founder effect. Hum Genet,2000,107:40 - 44.

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