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Volumn 43, Issue 10, 2014, Pages 798-800

Novel complex disease allele mutations in cleidocranial dysplasia patients

Author keywords

Cleidocranial dysostosis; Cleidocranial dysplasia; RUNX2; Supernumerary teeth

Indexed keywords

PROLINE; SERINE; THREONINE; TRANSCRIPTION FACTOR RUNX2; ADENINE; ASPARAGINE; ASPARTIC ACID; CYTOSINE; GUANINE; LEUCINE; RUNX2 PROTEIN, HUMAN; THYMINE;

EID: 84911388735     PISSN: 09042512     EISSN: 16000714     Source Type: Journal    
DOI: 10.1111/jop.12198     Document Type: Article
Times cited : (10)

References (8)
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  • 2
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  • 3
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    • Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) Kindred and evidence for locus homogeneity
    • Ramesar RS, Greenberg J, Martin R, et al. Mapping of the gene for cleidocranial dysplasia in the historical Cape Town (Arnold) Kindred and evidence for locus homogeneity. J Med Genet 1996; 33: 511-14.
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    • Ramesar, R.S.1    Greenberg, J.2    Martin, R.3
  • 4
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    • Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia
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    • Effect of cleidocranial dysplasia-related novel mutation of RUNX2 on characteristics of dental pulp cells and tooth development
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    • Xuan, D.1    Sun, X.2    Yan, Y.3    Xie, B.4    Xu, P.5    Zhang, J.6
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    • A method and server for predicting damaging missense mutations
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    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 8
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    • MutationTaster evaluates disease-causing potential of sequence alterations
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.