Article
Mutations in the CRB1 gene cause Leber congenital amaurosis.
Archives of ophthalmology (Chicago, Ill. : 1960) - 1 Mar 2001
Lotery A J, Jacobson S G, Fishman G A, Weleber R G, Fulton A B, Namperumalsamy P, Héon E, Levin A V, Grover S, Rosenow J R, Kopp K K, Sheffield V C, Stone E M
Abstract excerpt
OBJECTIVES: To test the hypothesis that mutations in the CRB1 gene cause Leber congenital amaurosis (LCA) and, if so, to describe the ocular phenotype of patients with LCA who harbor CRB1 sequence variations. PATIENTS: One hundred ninety probands with a clinical diagnosis of LCA were selected from a cohort of 233 probands ascertained in 5 different countries. The remaining 43 probands (18%) were excluded because...
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