Article
CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.
International journal of molecular sciences - 18 Nov 2021
Häfliger Irene M, Marchionatti Emma, Stengård Michele, Wolf-Hofstetter Sonja, Paris Julia M, Jacinto Joana G P, Watté Christine, Voelter Katrin, Occelli Laurence M, Komáromy András M, Oevermann Anna, Goepfert Christine, Borgo Angelica, Roduit Raphaël, Spengeler Mirjam, Seefried Franz R, Drögemüller Cord
Abstract excerpt
Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic variants were found only for rare forms of cataract but not for retinopathies. The aim of this study was to characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. Electroretinography in an affected calf...
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