Associated Papers
CRB1 mutations in inherited retinal dystrophies.
Bujakowska K et al.
Human Mutation, 2012
The N1317H substitution associated with Leber congenital amaurosis results in impaired interdomain packing in human CRB1 epidermal growth factor-like (EGF) domains.
Davis JA et al.
The Journal of Biological Chemistry, 2007
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina.
Mehalow AK et al.
Human Molecular Genetics, 2003
Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa.
Bernal S et al.
Journal of Medical Genetics, 2003
Mutation screening of Pakistani families with congenital eye disorders.
Khaliq S et al.
Experimental Eye Research, 2003
Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12).
den Hollander AI et al.
Nature Genetics, 1999
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