Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations

Adolescents with low von Willebrand factor (VWF) levels and heavy menstrual bleeding (HMB) experience significant morbidity. There is a need to better characterize these patients genetically and improve our understanding of the pathophysiology of bleeding. We performed whole-exome sequencing on 86 p...

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Detalles Bibliográficos
Autores principales: Sadler, Brooke, Minard, Charles G., Haller, Gabe, Gurnett, Christina A., O’Brien, Sarah H., Wheeler, Allison, Jain, Shilpa, Sharma, Mutka, Zia, Ayesha, Kulkarni, Roshni, Mullins, Eric, Ragni, Margaret V., Sidonio, Robert, Dietrich, Jennifer E., Kouides, Peter A., Di Paola, Jorge, Srivaths, Lakshmi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2022
Materias:
Thrombosis and Hemostasis
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8791588/
https://www.ncbi.nlm.nih.gov/pubmed/34807970
http://dx.doi.org/10.1182/bloodadvances.2021005118

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