Two Novel CRX Mutant Proteins Causing Autosomal Dominant Leber Congenital Amaurosis Interact Differently With NRL

Leber congenital amaurosis (LCA) is a congenital retinal dystrophy characterized by severe visual loss in infancy and nystagmus. Although most often inherited in an autosomal recessive fashion, rare individuals with mutations in the cone-rod homeobox gene, CRX, have dominant disease. CRX is critical...

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Auteurs principaux: Nichols, Lorenzo L., Alur, Ramakrishna P., Boobalan, Elangovan, Sergeev, Yuri V., Caruso, Rafael C., Stone, Edwin M., Swaroop, Anand, Johnson, Mary A., Brooks, Brian P.
Format: Artigo
Langue:Inglês
Publié: 2010
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Article
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC2952391/
https://ncbi.nlm.nih.gov/pubmed/20513135
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21268
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