Compound heterozygous PLA2G6 loss-of-function variants in Swaledale sheep with neuroaxonal dystrophy

Sporadic occurrences of neurodegenerative disorders including neuroaxonal dystrophy (NAD) have been previously reported in sheep. However, so far no causative genetic variant has been found for ovine NAD. The aim of this study was to characterize the phenotype and the genetic aetiology of an early-o...

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Detalles Bibliográficos
Autores principales: Letko, Anna, Strugnell, Ben, Häfliger, Irene M., Paris, Julia M., Waine, Katie, Drögemüller, Cord, Scholes, Sandra
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2020
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7840627/
https://www.ncbi.nlm.nih.gov/pubmed/33159255
http://dx.doi.org/10.1007/s00438-020-01742-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7840627/
https://www.ncbi.nlm.nih.gov/pubmed/33159255
http://dx.doi.org/10.1007/s00438-020-01742-1

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