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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Detalhes bibliográficos
Publicado no:Blood
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2020
Assuntos:
Clinical Trials and Observations
Acesso em linha: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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