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Article

Hypomorphic NOTCH3 mutation in an Italian family with CADASIL features

27 Aug 2014

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 25260852
DOI: 10.1016/j.neurobiolaging.2014.08.021

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Hypomorphic NOTCH3 mutation in an Italian family with CADASIL featuresPMID 25260852Read ↗

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Notch3 mutations and the potential for diagnostic testing for CADASIL.Semantic proximity Read ↗

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A Japanese CADASIL patient with homozygous NOTCH3 p.Arg544Cys mutation confirmed pathologically.Semantic proximity Read ↗

First report of a homozygous mutation on exon 24 of the NOTCH3 gene in a paucisymptomatic CADASIL elderly patient.Semantic proximity Read ↗

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