Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.

doi:10.1016/s0022-510x(03)00108-4

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Article

Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.

Journal of the neurological sciences - 15 Aug 2003

Marini Valeria, Ferrera Loretta, Dorcaratto Alessandra, Viale Giuseppe, Origone Paola, Mareni Cristina, Garrè Cecilia

Abstract excerpt

Familial cerebral cavernous malformation (CCM) exhibits autosomal dominant inheritance and is characterized by vascular disorders of the brain, which can lead to seizures, focal neurological deficits, hemorrhagic stroke, and migraine. Three CCM loci have been mapped, but the gene for only one locus--KRIT1 coding for Krev-1/rap1 interaction trapped 1 (KRIT1) protein, which is responsible for more than 40% of...

Topics

Cysteine
DNA Mutational Analysis
Genetic Linkage
Glycine
Hemangioma, Cavernous, Central Nervous System
Humans
Italy
KRIT1 Protein
Microtubule-Associated Proteins
Middle Aged

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Molecular Sequence Data

Mutation

Pedigree

Polymerase Chain Reaction

Polymorphism, Single-Stranded Conformational

Proto-Oncogene Proteins

RNA, Messenger

Source

Open in PubMed

Identifiers

PMID: 12810002
DOI: 10.1016/s0022-510x(03)00108-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-12810002-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.PMID 12810002Read ↗

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