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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Salvato in:
Dettagli Bibliografici
Pubblicato in:Blood
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: American Society of Hematology 2020
Soggetti:
Clinical Trials and Observations
Accesso online: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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