Commercial genetic testing for type 2 polysaccharide storage myopathy and myofibrillar myopathy does not correspond to a histopathological diagnosis

BACKGROUND: Commercial genetic tests for type 2 polysaccharide storage myopathy (PSSM2) and myofibrillar myopathy (MFM) have not been validated by peer‐review, and formal regulation of veterinary genetic testing is lacking. OBJECTIVES: To compare genotype and allele frequencies of commercial test va...

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Detalhes bibliográficos
Publicado no:Equine Vet J
Main Authors: Valberg, Stephanie J., Finno, Carrie J., Henry, Marisa L., Schott, Melissa, Velez‐Irizarry, Deborah, Peng, Sichong, McKenzie, Erica C., Petersen, Jessica L.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Analytical Clinical Studies
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7937766/
https://ncbi.nlm.nih.gov/pubmed/32896939
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/evj.13345
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