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Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

OBJECTIVE: To determine the frequency of distinctive EGFr cysteine altering NOTCH3 mutations in the 60,706 exomes of the exome aggregation consortium (ExAC) database. METHODS: ExAC was queried for mutations distinctive for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoe...

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Detalles Bibliográficos
Autores principales:	Rutten, Julie W., Dauwerse, Hans G., Gravesteijn, Gido, van Belzen, Martine J., van der Grond, Jeroen, Polke, James M., Bernal‐Quiros, Manuel, Lesnik Oberstein, Saskia A. J.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Research Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5099530/ https://www.ncbi.nlm.nih.gov/pubmed/27844030 http://dx.doi.org/10.1002/acn3.344

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