NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 2A
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Voltage-gated Ca2+ channels couple membrane depolarization to Ca2+-dependent intracellular signaling events. This is achieved by… Expand PURPOSE
The purpose of this study was to identify the causative gene defect in two siblings with an uncharacterized cone-rod… Expand Mutations in genes encoding either components of the phototransduction cascade or proteins presumably involved in signaling from… Expand Glutamate release from photoreceptor terminals is controlled by voltage-dependent calcium channels (VDCCs). In humans, mutations… Expand Purpose: To describe the phenotype in a New Zealand family with an unusual severe X‐linked retinal disorder with a novel I745T… Expand CaBP1–8 are neuronal Ca2+-binding proteins with similarity to calmodulin (CaM). Here we show that CaBP4 is specifically expressed… Expand PURPOSE
Mutations in the alpha(1F) subunit of voltage-dependent calcium channels (VDCCs) have been shown to cause incomplete… Expand The locus for the incomplete form of X-linked congenital stationary night blindness (CSNB2) maps to a 1.1-Mb region in Xp11.23… Expand X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night… Expand X-linked congenital stationary night blindness (CSNB) is a recessive non-progressive retinal disorder characterized by night… Expand