No CCM2 mutations in a cohort of 31 sporadic cases

Neurology

Volumn 63, Issue 10, 2004, Pages 1979-

  Verlaan, D J ^a   Laurent, S B ^a   Rouleau, G A ^a   Siegel, Adrian M ^b  

^a MCGILL UNIVERSITY   (Canada)

^b UNIVERSITY HOSPITAL ZURICH   (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; MALCAVERNIN; PROTEIN KRIT1; UNCLASSIFIED DRUG;

ARTICLE; BRAIN BLOOD VESSEL; BRAIN MALFORMATION; CCM1 GENE; CCM2 GENE; CEREBRAL CAVERNOUS MALFORMATION; CHROMOSOME 7Q; CLINICAL ARTICLE; CLINICAL FEATURE; COHORT ANALYSIS; EXON; FAMILY; GENE; GENE AMPLIFICATION; GENE LOCUS; GENE MUTATION; GENETIC ANALYSIS; GENETIC LINKAGE; HIGH PERFORMANCE LIQUID CHROMATOGRAPHY; HUMAN; MGC4607 GENE; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL;

EID: 8844239969     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000144195.55540.9D     Document Type: Article

References (7)

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3. Craig HD, Gunel M, Cepeda O, et al. Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation at 7p15-13 and 3q25.2-27. Hum Mol Genet 1998;7:1851-1858.
4. Laberge-le Couteulx S, Jung HH, Labauge P, et al. Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas. Nat Genet 1999;23:189-193.
5. Verlaan DJ, Laurent SB, Sure U, et al. CCM1 mutation screen of sporadic cases with cerebral cavernous malformations. Neurology 2004;62:1213-1215.
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7. Verlaan DJ, Laurent SB, Rochefort DL, et al. COM2 mutations account for 13% of cases in a large collection of kindreds with hereditary cavernous malformations. Ann Neurol 2004;55:757-758.