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Article

A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations.

Yi chuan xue bao = Acta genetica Sinica - 1 Feb 2006

Ji Bao-Hu, Qin Wei, Sun Tao, Feng Guo-Yin, He Lin, Wang Yu-Jiong

Abstract excerpt

Cerebral Cavernous Malformations (CCM) are vascular malformations that are mostly located in the central nervous system (CNS) and occasionally within the skin and retina, which are classified into three types (CCM1, CCM2 and CCM3) by being located at different loci on chromosomes. At present, CCM1 (7q21), CCM2 (7p13-p15) and CCM3 (3q25.2-q27) are respectively linked to krit1 (Krev interaction trapped gene 1),...

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Identifiers

PMID: 16529293
DOI: 10.1016/S0379-4172(06)60028-0

Genes

CCM2
PDCD10

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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A novel deletion mutation in CCM1 gene (krit1) is detected in a Chinese family with cerebral cavernous malformations.PMID 16529293Read ↗

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