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Whole genome sequences discriminate hereditary hemorrhagic telangiectasia phenotypes by non-HHT deleterious DNA variation

The abnormal vascular structures of hereditary hemorrhagic telangiectasia (HHT) often cause severe anemia due to recurrent hemorrhage, but HHT causal genes do not predict the severity of hematological complications. We tested for chance inheritance and clinical associations of rare deleterious varia...

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Detalles Bibliográficos
Autores principales:	Joyce, Katie E., Onabanjo, Ebun, Brownlow, Sheila, Nur, Fadumo, Olupona, Kike, Fakayode, Kehinde, Sroya, Manveer, Thomas, Geraldine A., Ferguson, Teena, Redhead, Julian, Millar, Carolyn M., Cooper, Nichola, Layton, D. Mark, Boardman-Pretty, Freya, Caulfield, Mark J., Shovlin, Claire L.
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/PMC9278305/ https://www.ncbi.nlm.nih.gov/pubmed/35316832 http://dx.doi.org/10.1182/bloodadvances.2022007136

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