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First Report of a pCys194Arg Notch 3 Mutation in a Romanian CADASIL Patient with Transient Ischemic Attacks and Patent Foramen Ovale – Case Report and Brief Review

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a hereditary disease caused by mutations in NOTCH3 gene, characterized by accumulation of a toxic protein in the small and medium size arterioles. Clinical manifestations of CADASIL include lacuna...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Maedica (Bucur)
Päätekijät: DULAMEA, Adriana Octaviana, LUPESCU, Ioan Cristian, LUPESCU, Ioana Gabriela
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Tarus Media 2019
Aiheet:
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6861716/
https://ncbi.nlm.nih.gov/pubmed/31798751
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.26574/maedica.2019.14.3.305
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