Article
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
American journal of human genetics - 1 Oct 2006
Zeitz Christina, Kloeckener-Gruissem Barbara, Forster Ursula, Kohl Susanne, Magyar István, Wissinger Bernd, Mátyás Gábor, Borruat François-Xavier, Schorderet Daniel F, Zrenner Eberhart, Munier Francis L, Berger Wolfgang
Abstract excerpt
Mutations in genes encoding either components of the phototransduction cascade or proteins presumably involved in signaling from photoreceptors to adjacent second-order neurons have been shown to cause congenital stationary night blindness (CSNB). Sequence alterations in CACNA1F lead to the incomplete type of CSNB (CSNB2), which can be distinguished by standard electroretinography (ERG). CSNB2 is associated with...
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