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Article

CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y).

Internal medicine (Tokyo, Japan) - 1 Jan 2006

Ishida Chiho, Sakajiri Ken-ichi, Yoshita Mitsuhiro, Joutel Anne, Cave-Riant Florence, Yamada Masahito

Abstract excerpt

We report a 38-year-old Japanese woman who had cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) with a novel mutation (TGT to TAT) at nucleotide position 1241 (C388Y) in exon 7 of the Notch3 gene (NOTCH3). Immunostaining of a skin biopsy with a...

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Source

Identifiers

PMID: 16974063
DOI: 10.2169/internalmedicine.45.1692

Genes

NOTCH3
TAT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-16974063-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

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CADASIL with a novel mutation in exon 7 of NOTCH3 (C388Y).PMID 16974063Read ↗

CADASIL with a novel NOTCH3 mutation (Cys478Tyr).Semantic proximity Read ↗

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