Article
Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
Investigative ophthalmology & visual science - 1 Jun 2001
Nakamura M, Ito S, Terasaki H, Miyake Y
Abstract excerpt
PURPOSE: Although it was reported that congenital stationary night blindness (CSNB) could be divided into complete and incomplete CSNB clinically in 1986, it was not until 1998 that the two types were found to be distinct clinical diseases by molecular genetic analysis. The purpose of this article is to report mutations in the retina-specific calcium channel alpha1-subunit gene (CACNA1F) in Japanese patients with...
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