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Article

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

PLoS genetics - 1 Jan 2020

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

Abstract excerpt

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 compared with 405 whole genome sequences of dogs of other breeds to filter benign common variants. Nine variants...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 31999692
DOI: 10.1371/journal.pgen.1008527
PMCID: PMC7012447

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