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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Detalles Bibliográficos
Autores principales: Raj, Karthik, Giger, Urs
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7706237/
https://www.ncbi.nlm.nih.gov/pubmed/33292730
http://dx.doi.org/10.1186/s40575-020-00098-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7706237/
https://www.ncbi.nlm.nih.gov/pubmed/33292730
http://dx.doi.org/10.1186/s40575-020-00098-4

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