Article
Novel mutations in the arrestin gene and associated clinical features in Japanese patients with Oguchi's disease.
Ophthalmology - 1 Jul 2004
Nakamura Makoto, Yamamoto Shuji, Okada Masaki, Ito Sei, Tano Yasuo, Miyake Yozo
Abstract excerpt
PURPOSE: Only 2 mutations in the arrestin gene have been previously reported to be associated with Oguchi's disease, a homozygous Asn309(1-bp del) mutation in Japanese families and a homozygous Arg193stop mutation in an Indian family. The aim of this article is to report 2 novel mutations in the arrestin gene in 2 Japanese patients with Oguchi's disease and to describe the clinical features with the mutations....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.