Mutation Database Mutations of the Human Crumbs Homologue 1 (CRB1)

References

1. Bernal,S., Calaf,M., Garcia-Hoyos,M., Garcia-Sandoval,B., Rosell,J., Adan,A., Ayuso,C., and Baiget,M. Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. 2003; J.Med.Genet. 40: e89
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2. den Hollander,A.I., Heckenlively,J.R., van den Born,L.I., de Kok,Y.J., Velde-Visser,S.D., Kellner,U., Jurklies,B., van Schooneveld,M.J., Blankenagel,A., Rohrschneider,K., Wissinger,B., Cruysberg,J.R., Deutman,A.F., Brunner,H.G., Apfelstedt-Sylla,E., Hoyng,C.B., and Cremers,F.P. Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. 2001; Am.J.Hum.Genet. 69: 198-203.
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3. den Hollander,A.I., ten Brink,J.B., de Kok,Y.J., van Soest,S., van den Born,L.I., van Driel,M.A., van de Pol,D.J.R., Payne,A.M., Bhattacharya,S.S., Kellner,U., Hoyng,C.B., Westerveld,A., Brunner,H.G., Bleeker Wagemakers,E.M., Deutman,A.F., Heckenlively,J.R., Cremers,F.P.M., Bergen,A.A.B., van de Pol,D.J., Bleeker-Wagemakers,E.M., Heckenlively,J.R., Cremers,F.P., and Bergen,A.A. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 1999; Nat.Genet. 23: 217-221.
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4. Gerber,S., Perrault,I., Hanein,S., Shalev,S., Zlotogora,J., Barbet,F., Ducroq,D., Dufier,J., Munnich,A., Rozet,J., and Kaplan,J. A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. 2002; Ophthalm.Genet. 23: 225-235.
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5. Hanein,S., Perrault,I., Gerber,S., Tanguy,G., Barbet,F., Ducroq,D., Calvas,P., Dollfus,H., Hamel,C., Lopponen,T., Munier,F., Santos,L., Shalev,S., Zafeiriou,D., Dufier,J.L., Munnich,A., Rozet,J.M., and Kaplan,J. Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. 2004; Hum Mutat. 23: 306-317.
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6. Lotery,A.J., Jacobson,S.G., Fishman,G.A., Weleber,R.G., Fulton,A.B., Namperumalsamy,P., Heon,E., Levin,A.V., Grover,S., Rosenow,J.R., Kopp,K.K., Sheffield,V.C., and Stone,E.M. Mutations in the CRB1 gene cause Leber congenital amaurosis. 2001; Arch.Ophthalmol. 119: 415-420.
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7. Lotery,A.J., Malik,A., Shami,S.A., Sindhi,M., Chohan,B., Maqbool,C., Moore,P.A., Denton,M.J., and Stone,E.M. CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. 2001; Ophthalmic Genet. 22: 163-169.
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