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颅骨锁骨发育不全一家2例 被引量:1

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出处 《中华医学遗传学杂志》 CAS CSCD 北大核心 2005年第3期304-304,共1页 Chinese Journal of Medical Genetics
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  • 2Cooper SC, Flaitz CM, Johnston DA, et al. A natural history of cleidocranial dysplasia[J]. Am J Med Genet,2001, 104: 1-6.
  • 3Mundlos S, Otto F, Mundlos C, et al. Mutations involving the transcription factor CBFA1 cause eleidoeranial dysplasia [J]. Cell, 1997, 89 : 773-779.
  • 4Stenson PD, Mort M, Ball EV, et al. The Human Gene Mutation Database (HGMD): 2008 Update[J]. Genome M, 2009, 1:13.
  • 5Ducy P, Zhang R, Geoffroy V, et al. Osf2/Cbfal: A transcriptional activator of osteoblast differentiation[J]. Cell, 1997, 89:747-754.
  • 6Yoshida T, Kanegane H, Osato M, et al. Functional analysis of RUNX2 mutations in Japanese patients with cleidocranial dysplasia demonstrates novel genotype- phenotype correlations [J]. Am J HumGenet,2002, 71: 724-738.
  • 7Zaidi SK,Javed A, Choi JY, et al. A specific targeting signal directs Runx2/Cbfa1 to subnuelear domains and eontributes to transactivation of the osteocatein gene[J]. J Cell Sci,2001, 114: 3093-3102.
  • 8Komori T, Yagi H, Nomura S, et al. Targeted disruption of Cbfa1 results in a complete lack of bone formation owing to maturational arrest of osteoblasts[J]. Cell, 1997, 89 : 755-764.
  • 9Zhou G, Chen Y, Zhou L, et al. CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia[J]. Hum Mol Genet,1999, 8 : 2311-2316.
  • 10Hentze MW, Kulozik AE. A perfect message: RNA surveillance and nonsense- mediated decay. Cell, 1999, 96:307-310.

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