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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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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.
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.
Chicago author-date
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.
Chicago author-date (all authors)
Coppieters, Frauke, Ingele Casteels, Françoise Meire, Sarah De Jaegere, Sally Hooghe, Nicole van Regemorter, Hilde Van Esch, Aušra Matulevičienė, Luis Nunes, VALERIE MEERSSCHAUT, SOPHIE WALRAEDT, Lieve Standaert, Paul Coucke, Heidi Hoeben, Hester Y Kroes, Johan Vande Walle, Thomy de Ravel, Bart Leroy, and Elfride De Baere. 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.
IEEE
[1]
F. Coppieters 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, vol. 31, no. 10, pp. E1709–E1766, 2010.
@article{1069228,
  author       = {Coppieters, Frauke and Casteels, Ingele and Meire, Françoise and De Jaegere, Sarah and Hooghe, Sally and van Regemorter, Nicole and Van Esch, Hilde and Matulevičienė, Aušra 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},
  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},
  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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