Clinical and Genetic Analysis of 63 Families Demonstrating Early and Advanced Characteristic Fundus as the Signature of CRB1 Mutations
Author:
Funder
National Natural Science Foundation of China
Publisher
Elsevier BV
Subject
Ophthalmology
Reference61 articles.
1. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12);den Hollander;Nat Genet,1999
2. CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila;den Hollander;Hum Mol Genet,2001
3. Isolation of Crb1, a mouse homologue of Drosophila crumbs, and analysis of its expression pattern in eye and brain;den Hollander;Mech Dev,2002
4. Crumbs, the Drosophila homologue of human CRB1/RP12, is essential for photoreceptor morphogenesis;Pellikka;Nature,2002
5. CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina;Mehalow;Hum Mol Genet,2003
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