Targeted Next-Generation Resequencing of F5 Gene Identifies Novel Multiple Variants Pattern in Severe Hereditary Factor V Deficiency

The present study investigated the genetic defects underlying severe Factor V deficiency in a 26-year-old Columbian (South America) female and her immediate family (both parents and newborn child) by next generation sequencing (NGS) of the entire F5 gene locus. Five mutations in the coding sequence...

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Detalles Bibliográficos
Autores principales: Janicki, Piotr K., Vaida, Sonia, AL-Mondhiry, Hamid A. B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2013
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639706/
https://www.ncbi.nlm.nih.gov/pubmed/23662219
http://dx.doi.org/10.1155/2013/941684

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3639706/
https://www.ncbi.nlm.nih.gov/pubmed/23662219
http://dx.doi.org/10.1155/2013/941684

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