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Article

Archetypal NOTCH3 mutations frequent in public exome: implications for CADASIL

28 Sept 2016

Abstract excerpt

OBJECTIVE: 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 leukoencephalopathy (CADASIL), namely mutations leading to a cysteine amino acid change in one of the 34 EGFr domains of NOTCH3. The genotype-phenotype correlation predicted by the ExAC data was...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 27844030
DOI: 10.1002/acn3.344

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