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Initial survey of PLA2G6 missense variant causing neuroaxonal dystrophy in Papillon dogs in North America and Europe

BACKGROUND: An autosomal recessive, rapidly progressive degenerative neuropathy known as infantile neuroaxonal dystrophy (NAD) was originally reported in Papillion puppies in 1995. In 2015, a causative missense variant in the PLA2G6 gene was identified in three affected puppies. Archived samples fro...

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Bibliografiska uppgifter
I publikationen:Canine Med Genet
Huvudupphovsmän: Raj, Karthik, Giger, Urs
Materialtyp: Artigo
Språk:Inglês
Publicerad: BioMed Central 2020
Ämnen:
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC7706237/
https://ncbi.nlm.nih.gov/pubmed/33292730
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s40575-020-00098-4
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