期刊文献+

Treacher Collins综合征分子遗传学研究进展 被引量:4

下载PDF
导出
摘要 Treacher Collins综合征(Treacher Collins syndrome,TCS)是一种常染色体显性遗传性疾病, 临床常表现为面下颌骨发育不良、外耳畸形等症状,本文将对该综合征基因TCOF1的研究进展作一综 述。
作者 沈浩 章庆国
出处 《国外医学(遗传学分册)》 2005年第1期46-49,59,共5页 Foreign Medical Sciences(Section of Genetics )
  • 相关文献

参考文献20

  • 1Rovin S, Dachi SF, Borenstein DB, et al. Mandibulofacial dysostosis,a familial study of five generations. J Pediatr, 1964, 65:215-221.
  • 2Fazen LE, Elmore J, Nadler HL. Mandibulo-facial dysostosis.(Treacher Collins syndrome). Am J Dis Child , 1967,113: 405-410.
  • 3Jones KL , Smith DW , Harvey MA , et al. Older paternal age and fresh gene mutation: data on additional disorders. J Pediatr,1975,86: 84-88.
  • 4Dixon MJ, Read AP, Donnai D, et al, The gene for Treacher Collins syndrome maps to the long arm of chromosome 5. Am J Hum Genet, 1991,49: 17-22.
  • 5Jabs EW , Li X , Coss CA , et al. Mapping the Treacher Collins syndrome locus to 5q31.3-q33.3,Genomics, 1991, 11: 193-198.
  • 6Jabs EW, Li X, Lovett M, et al. Genetic and physical mapping of the Treacher Collins syndrome locus with respect to loci in the chromosome 5q3 region. Genomics, 1993,18:7-13.
  • 7The Treacher Collins Syndrome Collaborative Group. Positional cloning of a gene involved in the pathogenesis of Treacher Collins syndrome. Nat Genet, 1996,12: 130-136.
  • 8Dixon J, Edwards SJ, Anderson I, et al. Identification of the complete coding sequence and genomic organization of the Treacher Collins syndrome gene. Genome Res, 1997, 7: 223-234.
  • 9Wise CA, Ching LC , Paznekas WA , et al. TCOF1 gene encodes a putative nucleolar phosphorylation that exibits mutation in Treacher Collins syndrome throughout its coding region,Proc Natl Acad Sci USA, 1997, 94: 3110-3115.
  • 10Dixon J, Hovanes K, Shiang R, et al. Sequence analysis, identification of evolutionary conserved motifs and expression analysis of murine tcof1 provide further evidence for a potential function for the gene and its human homologue, TCOF1. Hum Mol Genet, 1997,6:727-737.

同被引文献36

引证文献4

二级引证文献9

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