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Volumn 21, Issue 1, 2006, Pages 35-39

Mutation analysis of the FOXL2 gene in Chinese patients with blepharophimosis-ptosis-epicanthus inversus syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE DERIVATIVE; POLYALANINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR FOXL 2; UNCLASSIFIED DRUG;

EID: 33344470143     PISSN: 02678357     EISSN: None     Source Type: Journal    
DOI: 10.1093/mutage/gei067     Document Type: Article
Times cited : (11)

References (15)
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  • 3
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  • 4
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    • The pupative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome
    • Crisponi,L., Deiana,M., Loi,A. et al. (2001) The pupative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome. Nat. Genet., 27, 159-166.
    • (2001) Nat. Genet. , vol.27 , pp. 159-166
    • Crisponi, L.1    Deiana, M.2    Loi, A.3
  • 6
    • 4344654866 scopus 로고    scopus 로고
    • A novel insertion mutation in the FOXL2 gene is detected in a big Chinese familiy with blepharophimosis-ptosis-epicanthus inversus
    • Qian,X.Q., Shu,A.L., Qin,W., Xing,Q.H., Gao,J.J., Yang,J.D., Guo,G.Y. and He,L. (2004) A novel insertion mutation in the FOXL2 gene is detected in a big Chinese familiy with blepharophimosis-ptosis-epicanthus inversus. Mutat. Res., 554, 19-22.
    • (2004) Mutat. Res. , vol.554 , pp. 19-22
    • Qian, X.Q.1    Shu, A.L.2    Qin, W.3    Xing, Q.H.4    Gao, J.J.5    Yang, J.D.6    Guo, G.Y.7    He, L.8
  • 7
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    • FOXL2 and BPES: Mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation
    • De Baere,E., Beysen,D., Oley,C. et al. (2003) FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am. J. Hum. Genet., 72, 478-487.
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    • De Baere, E.1    Beysen, D.2    Oley, C.3
  • 8
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    • Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation
    • De Baere,E., Dixon,M.J., Small,K.W. et al. (2001) Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype-phenotype correlation. Hum. Mol. Genet., 15, 1591-1600.
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  • 10
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    • A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation
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    • (2004) J. Med. Genet. , vol.41 , pp. 932-936
    • Caburet, S.1    Demarez, A.2    Moumne, L.3    Fellous, M.4    De Baere, E.5    Veitia, R.A.6
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  • 12
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.