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TRPM1 mutations are associated with the complete form of congenital stationary night blindness

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...

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Detalles Bibliográficos
Autores principales: Nakamura, Makoto, Sanuki, Rikako, Yasuma, Tetsuhiro R., Onishi, Akishi, Nishiguchi, Koji M., Koike, Chieko, Kadowaki, Mikiko, Kondo, Mineo, Miyake, Yozo, Furukawa, Takahisa
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2010
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2838739/
https://www.ncbi.nlm.nih.gov/pubmed/20300565