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Precision medicine identifies a pathogenic variant of the ITGA2B gene responsible for Glanzmann's thrombasthenia in a cat

BACKGROUND: A nonpedigreed male cat presented with epistaxis, severe bladder hemorrhage, and secondary urethral obstruction after cystocentesis. OBJECTIVES: To characterize the phenotype of a cat with bleeding diathesis and use a precision medicine approach to identify the molecular genetic defect b...

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Detalles Bibliográficos
Autores principales: Li, Ronald H. L., Ontiveros, Eric, Nguyen, Nghi, Stern, Joshua A., Lee, Elizabeth, Hardy, Brian T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7694846/
https://www.ncbi.nlm.nih.gov/pubmed/32935881
http://dx.doi.org/10.1111/jvim.15886