期刊文献+

神经纤维瘤病1例报道及文献复习

下载PDF
导出
出处 《临床与实验病理学杂志》 CAS CSCD 北大核心 2006年第6期761-761,共1页 Chinese Journal of Clinical and Experimental Pathology
  • 相关文献

参考文献4

二级参考文献14

  • 1回允中 主译.诊断外科病理学(第3版)[M].北京:北京大学医学出版社,2003.1563.
  • 2武忠弼 杨光华.中华外科病理学(第1版)[M].北京:人民卫生出版社,2002.525,2622-2623.
  • 3Rasmussen SA, Friedman JM. NF-1 gene and neurofibromatosis 1. Am J Epidemiol, 2000, 151: 33-40.
  • 4Garicochea B, Giorgi R, Odone VF, et al. Mutational analysis of N-RAS and GAP-related domain of the neurofibromatosis type 1 gene in chronic myelogenous leukemia, l.euk Res,1998, 22:1003-1007.
  • 5Upadhyaya M, Maynard J, Osborn M, et al. Characterisation of germline mutations in the neuro fibromatosis type 1 (NF-1) gene. J Med Genet, 1995, 32: 706-710.
  • 6Maynard J, Krawczak M, Upadhyaya M, et al. Characterization and significance of nine novel mutations in exon 16 of the neurofibromatosis type 1 ( NF-1 ) gene. Hum Genet, 1997,99:674-676.
  • 7Peters H, Hess D, Fahsold R, et al. A novel mutation L1425p in the GAP region of the NF-1 gene .detected by TGGE. Hum Murat, 1999, 13: 337.
  • 8Horn D, Robinson PN, Boddrich A,et al. Three novel mutations of the NF 1 gene detected by TGGE of exon 5 and 8. Electrophoresis, 1996, 17:1559-1563.
  • 9Upadhyaya M, Ruggieri M, Maynard J, et al. Gross deletions of the neurofibromatosis type 1 ( NF 1 ) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet, 1998, 102:591-597.
  • 10Ars E, Kruyer H, Gaona A, et al. A clinical variant of neurofibromatosis type 1 : familial spinal neurofibromatosis with a frameshift mutation in the NF-1 gene. Am J Hum Genet,1998, 62: 834-841.

共引文献2

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部