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

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

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
Article number1771
JournalGenes
Volume12
Issue number11
Number of pages19
ISSN2073-4425
DOIs
Publication statusPublished - Nov 2021
MoE publication typeA1 Journal article-refereed

Fields of Science

  • canine
  • PRA
  • retinal degeneration
  • BBS
  • BBS2
  • syndromic
  • LINKED RETINITIS-PIGMENTOSA
  • MUTATIONS
  • FAMILIES
  • MODEL
  • MOUSE
  • RETINOPATHY
  • DIAGNOSIS
  • FRAMEWORK
  • PROTEINS
  • DISEASE
  • 413 Veterinary science

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