Mutational analysis of 206 families with cavernous malformations.

doi:10.3171/jns.2003.99.1.0038

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Article

Mutational analysis of 206 families with cavernous malformations.

Journal of neurosurgery - 1 Jul 2003

Laurans Maxwell S H, DiLuna Michael L, Shin Dana, Niazi Faheem, Voorhees Jennifer R, Nelson-Williams Carol, Johnson Eric W, Siegel Adrian M, Steinberg Gary K, Berg Michel J, Scott R Michael, Tedeschi Gioacchino, Enevoldson T Peter, Anson John, Rouleau Guy A, Ogilvy Christopher, Awad Issam A, Lifton Richard P, Gunel Murat

Abstract excerpt

OBJECT: A gene contributing to the autosomal-dominant cerebral cavernous malformation (CCM) phenotype, KRIT1 (an acronym for Krev Interaction Trapped 1), has been identified through linkage analysis and mutation screening. The authors collected blood samples from 68 patients with familial CCM and 138 patients with apparently sporadic CCM as well as from their families, in an effort to characterize the prevalence...

Topics

Codon
DNA Mutational Analysis
Genotype
Hemangioma, Cavernous
Hispanic or Latino
Humans
Intracranial Arteriovenous Malformations
KRIT1 Protein
Microtubule-Associated Proteins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Phenotype

Point Mutation

Polymorphism, Genetic

Proto-Oncogene Proteins

Reverse Transcriptase Polymerase Chain Reaction

Source

Open in PubMed

Identifiers

PMID: 12854741
DOI: 10.3171/jns.2003.99.1.0038

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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