Targeted re-sequencing of F8, F9 and VWF: Characterization of Ion Torrent data and clinical implications for mutation screening

Mutations are not identified in ~5% of hemophilia A and 10–35% of type 1 VWD patients. The bleeding tendency also varies among patients carrying the same causative mutation, potentially indicating variants in additional genes modifying the phenotype that cannot be identified by routine single-gene a...

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Detalles Bibliográficos
Autores principales: Manderstedt, Eric, Nilsson, Rosanna, Lind-Halldén, Christina, Ljung, Rolf, Astermark, Jan, Halldén, Christer
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485758/
https://www.ncbi.nlm.nih.gov/pubmed/31026269
http://dx.doi.org/10.1371/journal.pone.0216179

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6485758/
https://www.ncbi.nlm.nih.gov/pubmed/31026269
http://dx.doi.org/10.1371/journal.pone.0216179

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