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CEP290, a gene with many faces : mutation overview and presentation of CEP290base

Frauke Coppieters (UGent) , Steve Lefever (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)
(2010) HUMAN MUTATION. 31(10). p.1097-1108
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Keywords
CEP290, locus-specific database, genotype-phenotype correlations, DISEASE MECHANISMS, CENTROSOMAL PROTEIN, PRIMARY CILIUM, RETINAL DEGENERATION, RETINITIS-PIGMENTOSA, SENIOR-LOKEN-SYNDROME, JOUBERT-SYNDROME, BARDET-BIEDL-SYNDROME, MECKEL-GRUBER-SYNDROME, LEBER CONGENITAL AMAUROSIS, modifiers, ciliary proteome

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Citation

Please use this url to cite or link to this publication:

Chicago
Coppieters, Frauke, Steve Lefever, Bart Leroy, and Elfride De Baere. 2010. “CEP290, a Gene with Many Faces : Mutation Overview and Presentation of CEP290base.” Human Mutation 31 (10): 1097–1108.
APA
Coppieters, F., Lefever, S., Leroy, B., & De Baere, E. (2010). CEP290, a gene with many faces : mutation overview and presentation of CEP290base. HUMAN MUTATION, 31(10), 1097–1108.
Vancouver
1.
Coppieters F, Lefever S, Leroy B, De Baere E. CEP290, a gene with many faces : mutation overview and presentation of CEP290base. HUMAN MUTATION. 2010;31(10):1097–108.
MLA
Coppieters, Frauke, Steve Lefever, Bart Leroy, et al. “CEP290, a Gene with Many Faces : Mutation Overview and Presentation of CEP290base.” HUMAN MUTATION 31.10 (2010): 1097–1108. Print.
@article{1069222,
  author       = {Coppieters, Frauke and Lefever, Steve and Leroy, Bart and De Baere, Elfride},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  keyword      = {CEP290,locus-specific database,genotype-phenotype correlations,DISEASE MECHANISMS,CENTROSOMAL PROTEIN,PRIMARY CILIUM,RETINAL DEGENERATION,RETINITIS-PIGMENTOSA,SENIOR-LOKEN-SYNDROME,JOUBERT-SYNDROME,BARDET-BIEDL-SYNDROME,MECKEL-GRUBER-SYNDROME,LEBER CONGENITAL AMAUROSIS,modifiers,ciliary proteome},
  language     = {eng},
  number       = {10},
  pages        = {1097--1108},
  title        = {CEP290, a gene with many faces : mutation overview and presentation of CEP290base},
  url          = {http://dx.doi.org/10.1002/humu.21337},
  volume       = {31},
  year         = {2010},
}

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