Novel frameshift mutations in CRX associ
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Carlo Rivolta; Naomi E. Peck; Anne B. Fulton; Gerald A. Fishman; Eliot L. Berson
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Article
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2001
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John Wiley and Sons
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English
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Mutations in CRX, a photoreceptor-specific transcription factor, can cause Leber congenital amaurosis (LCA), cone-rod dystrophy (CORD), and retinitis pigmentosa (RP), all of which feature severe visual impairment. Upon screening 55 patients with Leber congenital amaurosis, 75 patients with cone-rod