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Rapid identification of a pathogenic variant of PROS1 in a thrombophilic family by whole exome sequencing: A case report

RATIONALE: Venous thrombosis remains a significant problem in modern days. Genetic factors contribute to a subset of patients with venous thrombosis. It is sometimes challenging to identify the underlying culprit in thrombophilic individuals based on traditional laboratory testing and Sanger sequenc...

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Detalles Bibliográficos
Autores principales: Zhang, Wenwen, Huang, Chen, Zhou, Wei
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8718207/
https://www.ncbi.nlm.nih.gov/pubmed/34967380
http://dx.doi.org/10.1097/MD.0000000000028436