Mutational and phenotypic characterization of hereditary hemorrhagic telangiectasia

Hereditary hemorrhagic telangiectasia (HHT) is an autosomal dominant vascular dysplasia. Care delivery for HHT patients is impeded by the need for laborious, repeated phenotyping and gaps in knowledge regarding the relationships between causal DNA variants in ENG, ACVRL1, SMAD4 and GDF2, and clinica...

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Dades bibliogràfiques
Publicat a:Blood
Autors principals: Shovlin, Claire L., Simeoni, Ilenia, Downes, Kate, Frazer, Zoe C., Megy, Karyn, Bernabeu-Herrero, Maria E., Shurr, Abigail, Brimley, Jennifer, Patel, Dilipkumar, Kell, Loren, Stephens, Jonathan, Turbin, Isobel G., Aldred, Micheala A., Penkett, Christopher J., Ouwehand, Willem H., Jovine, Luca, Turro, Ernest
Format: Artigo
Idioma:Inglês
Publicat: American Society of Hematology 2020
Matèries:
Clinical Trials and Observations
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC7717479/
https://ncbi.nlm.nih.gov/pubmed/32573726
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood.2019004560
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