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Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

(2010) HUMAN MUTATION. 31(10). p.E1709-E1766
Author
Organization
Keywords
AHI1, LEBER CONGENITAL AMAUROSIS, genotype-phenotype correlation, SEVERE RETINAL DYSTROPHY, SYNDROME-RELATED DISORDERS, RETINITIS-PIGMENTOSA, CENTROSOMAL PROTEIN, JOUBERT-SYNDROME, GENOTYPING MICROARRAY, MUTATION ANALYSIS, CLINICAL DEFINITION, MOLECULAR DIAGNOSIS, modifier, LCA, CEP290

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Citation

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Chicago
Coppieters, Frauke, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, et al. 2010. “Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes.” Human Mutation 31 (10): E1709–E1766.
APA
Coppieters, F., Casteels, I., Meire, F., De Jaegere, S., Hooghe, S., van Regemorter, N., Van Esch, H., et al. (2010). Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. HUMAN MUTATION, 31(10), E1709–E1766.
Vancouver
1.
Coppieters F, Casteels I, Meire F, De Jaegere S, Hooghe S, van Regemorter N, et al. Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes. HUMAN MUTATION. 2010;31(10):E1709–E1766.
MLA
Coppieters, Frauke, Ingele Casteels, Françoise Meire, et al. “Genetic Screening of LCA in Belgium: Predominance of CEP290 and Identification of Potential Modifier Alleles in AHI1 of CEP290-related Phenotypes.” HUMAN MUTATION 31.10 (2010): E1709–E1766. Print.
@article{1069228,
  author       = {Coppieters, Frauke and Casteels, Ingele and Meire, Fran\c{c}oise and De Jaegere, Sarah and Hooghe, Sally and van Regemorter, Nicole and Van Esch, Hilde and Matulevi\v{c}ien\.{e}, Au\v{s}ra and Nunes, Luis and MEERSSCHAUT, VALERIE and WALRAEDT, SOPHIE and Standaert, Lieve and Coucke, Paul and Hoeben, Heidi and Kroes, Hester Y and Vande Walle, Johan and de Ravel, Thomy and Leroy, Bart and De Baere, Elfride},
  issn         = {1059-7794},
  journal      = {HUMAN MUTATION},
  language     = {eng},
  number       = {10},
  pages        = {E1709--E1766},
  title        = {Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes},
  url          = {http://dx.doi.org/10.1002/humu.21336},
  volume       = {31},
  year         = {2010},
}

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