A Missense Variant in the Bardet-Biedl Syndrome 2 Gene (<i>BBS2</i>) Leads to a Novel Syndromic Retinal Degeneration in the Shetland Sheepdog

por Rebekkah J. Hitti-Malin, Louise M. Burmeister, Frode Lingaas, Maria Kaukonen, Inka Pettinen, Hannes Lohi, David Sargan, Cathryn S. Mellersh
Publicado 2021

A frameshift mutation in golden retriever dogs with progressive retinal atrophy endorses SLC4A3 as a candidate gene for human retinal degenerations.

por Louise M Downs, Berit Wallin-Håkansson, Mike Boursnell, Stefan Marklund, Åke Hedhammar, Katarina Truvé, Louise Hübinette, Kerstin Lindblad-Toh, Tomas Bergström, Cathryn S Mellersh
Publicado 2011