Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene

This publication has 23 references indexed in Scilit:

• Spectrum of retGC1 mutations in Leber's congenital amaurosis
  European Journal of Human Genetics, 2000
• Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease
  Molecular Genetics and Metabolism, 2000
• Mutational analysis and clinical correlation in Leber congenital amaurosis
  Ophthalmic Genetics, 2000
• Leber Congenital Amaurosis
  Molecular Genetics and Metabolism, 1999
• A Range of Clinical Phenotypes Associated with Mutations in CRX, a Photoreceptor Transcription-Factor Gene
  American Journal of Human Genetics, 1998
• Mutations in RPE65 cause autosomal recessive childhood–onset severe retinal dystrophy
  Nature Genetics, 1997
• Mutations in RPE65 cause Leber's congenital amaurosis
  Nature Genetics, 1997
• Retinal–specific guanylate cyclase gene mutations in Leber's congenital amaurosis
  Nature Genetics, 1996
• Efficient 12-mutation testing in the CFTR gene: a general model for complex mutation analysis
  Human Molecular Genetics, 1993
• Preserved para-arteriole retinal pigment epithelium (PPRPE) in retinitis pigmentosa.
  British Journal of Ophthalmology, 1982