Phenotypic variability in 446 CADASIL patients: Impact of NOTCH3 gene mutation location in addition to the effects of age, sex and vascular risk factors

The recent discovery that the prevalence of cysteine mutations in the NOTCH3 gene responsible for CADASIL was more than 100 times higher in the general population than that estimated in patients highlighted that the mutation location in EGFr-like-domains of the NOTCH3 receptor could have a major eff...

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Detalles Bibliográficos
Autores principales: Dupé, Charlotte, Guey, Stéphanie, Biard, Lucie, Dieng, Sokhna, Lebenberg, Jessica, Grosset, Lina, Alili, Nassira, Hervé, Dominique, Tournier-Lasserve, Elisabeth, Jouvent, Eric, Chevret, Sylvie, Chabriat, Hugues
Formato: Online Artículo Texto
Lenguaje:English
Publicado: SAGE Publications 2022
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875352/
https://www.ncbi.nlm.nih.gov/pubmed/36254369
http://dx.doi.org/10.1177/0271678X221126280

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9875352/
https://www.ncbi.nlm.nih.gov/pubmed/36254369
http://dx.doi.org/10.1177/0271678X221126280

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