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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...
Autores principales: | Letko, Anna, Strugnell, Ben, Häfliger, Irene M., Paris, Julia M., Waine, Katie, Drögemüller, Cord, Scholes, Sandra |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer Berlin Heidelberg
2020
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Materias: | |
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 |
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