Characterisation of canine KCNIP4: A novel gene for cerebellar ataxia identified by whole-genome sequencing two affected Norwegian Buhund dogs

A form of hereditary cerebellar ataxia has recently been described in the Norwegian Buhund dog breed. This study aimed to identify the genetic cause of the disease. Whole-genome sequencing of two Norwegian Buhund siblings diagnosed with progressive cerebellar ataxia was carried out, and sequences co...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:PLoS Genet
Hlavní autoři: Jenkins, Christopher A., Kalmar, Lajos, Matiasek, Kaspar, Mari, Lorenzo, Kyöstilä, Kaisa, Lohi, Hannes, Schofield, Ellen C., Mellersh, Cathryn S., De Risio, Luisa, Ricketts, Sally L.
Médium: Artigo
Jazyk:Inglês
Vydáno: Public Library of Science 2020
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC7012447/
https://ncbi.nlm.nih.gov/pubmed/31999692
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1008527
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky