Article
TRPM1 mutations are associated with the complete form of congenital stationary night blindness.
Molecular vision - 12 Mar 2010
Nakamura Makoto, Sanuki Rikako, Yasuma Tetsuhiro R, Onishi Akishi, Nishiguchi Koji M, Koike Chieko, Kadowaki Mikiko, Kondo Mineo, Miyake Yozo, Furukawa Takahisa
Abstract excerpt
PURPOSE: To identify human transient receptor potential cation channel, subfamily M, member 1 (TRPM1) gene mutations in patients with congenital stationary night blindness (CSNB). METHODS: We analyzed four different Japanese patients with complete CSNB in whom previous molecular examination revealed no mutation in either nyctalopin (NYX) or glutamate receptor, metabotropic 6 (GRM6). The ophthalmologic examination...
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