A range of clinical phenotypes associated with mutations in CRX, a photoreceptor transcription-factor gene.

Mutations in the retinal-expressed gene CRX (cone-rod homeobox gene) have been associated with dominant cone-rod dystrophy and with de novo Leber congenital amaurosis. However, CRX is a transcription factor for several retinal genes, including the opsins and the gene for interphotoreceptor retinoid...

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Detalhes bibliográficos
Main Authors: Sohocki, M M, Sullivan, L S, Mintz-Hittner, H A, Birch, D, Heckenlively, J R, Freund, C L, McInnes, R R, Daiger, S P
Formato: Artigo
Idioma:Inglês
Publicado em: 1998
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC1377541/
https://ncbi.nlm.nih.gov/pubmed/9792858
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