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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Detalles Bibliográficos
Autores principales: Valberg, Stephanie J., Finno, Carrie J., Henry, Marisa L., Schott, Melissa, Velez‐Irizarry, Deborah, Peng, Sichong, McKenzie, Erica C., Petersen, Jessica L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Analytical Clinical Studies
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937766/
https://www.ncbi.nlm.nih.gov/pubmed/32896939
http://dx.doi.org/10.1111/evj.13345

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7937766/
https://www.ncbi.nlm.nih.gov/pubmed/32896939
http://dx.doi.org/10.1111/evj.13345

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