Article
Missense mutation in the gene encoding the alpha subunit of rod transducin in the Nougaret form of congenital stationary night blindness.
Nature genetics - 1 Jul 1996
Dryja T P, Hahn L B, Reboul T, Arnaud B
Abstract excerpt
Patients with congenital stationary night blindness enjoy normal daytime vision, which is mediated by cone photoreceptors, but are blind when ambient light is so dim that a normal individual would utilize only rod photoreceptors to see without colour discrimination. The disease is genetically heterogeneous. One form of dominantly inherited congenital night blindness is eponymously named "Nougaret' because...
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