Article
Characterization of the Crumbs homolog 2 (CRB2) gene and analysis of its role in retinitis pigmentosa and Leber congenital amaurosis.
Molecular vision - 15 Apr 2005
van den Hurk José A J M, Rashbass Penny, Roepman Ronald, Davis Jason, Voesenek Krysta E J, Arends Maarten L, Zonneveld Marijke N, van Roekel Marga H G, Cameron Karen, Rohrschneider Klaus, Heckenlively John R, Koenekoop Robert K, Hoyng Carel B, Cremers Frans P M, den Hollander Anneke I
Abstract excerpt
PURPOSE: Mutations in the Crumbs homolog 1 (CRB1) gene cause autosomal recessive retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA). Database searches reveal two other Crumbs homologs on chromosomes 9q33.3 and 19p13.3. The purpose of this study was to characterize the Crumbs homolog 2 (CRB2) gene on 9q33.3, to analyze its expression pattern, and to determine whether mutations in CRB2 are associated...
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