CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle

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-blin...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8620519/
https://www.ncbi.nlm.nih.gov/pubmed/34830323
http://dx.doi.org/10.3390/ijms222212440

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