Listar Centro de Investigación en Genómica y Bioinformática (CGB) por autor "Sandoval, Patricio"
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NOTCH3 Gene Mutation in a Chilean Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Family
Sánchez, Carolina [Univ Mayor, Ctr Genom & Bioinformat, Santiago, Chile]; Fonseca, Beatriz [Univ Mayor, Ctr Genom & Bioinformat, Santiago, Chile]; Rivera, Alejandra [Univ Mayor, Ctr Genom & Bioinformat, Santiago, Chile]; Latapiat, Verónica [Univ Mayor, Ctr Genom & Bioinformat, Santiago, Chile]; Gallardo, Andres; Roldan, Andres; Sandoval, Patricio; Manuel Matamala, Jose (ELSEVIER, 2020)Introduction: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a rare hereditary stroke disorder caused by mutations in the NOTCH3 gene. We report the first Chilean ...