Ophthalmological features associated with COL4A1 mutations.

Abstract excerpt

OBJECTIVE: To investigate the wide variability of ocular manifestations associated with mutations in the COL4A1 gene that encodes collagen IValpha1. METHODS: We clinically evaluated 7 patients from 2 unrelated families in whom ocular features segregated with COL4A1 mutations that were identified by direct sequencing. RESULTS: The G2159A transition (c.2159G>A) that leads to the missense mutation p.Gly720Asp was...

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