论文信息 - Familial cerebral cavernous malformations associated with a splice-site CCM2 deletion - 字舞流文

Familial cerebral cavernous malformations associated with a splice-site CCM2 deletion

M. Calero | R. Hortigüela | J. Bernar | O. Franch | P. Guardado Santervás | E. Riva | J. Esteban | A. Jiménez‐Huete

[1] O. Sürücü,et al. Novel CCM1, CCM2, and CCM3 mutations in patients with cerebral cavernous malformations: in‐frame deletion in CCM2 prevents formation of a CCM1/CCM2/CCM3 protein complex , 2008, Human mutation.

[2] E. Tournier-Lasserve,et al. Genetics of cavernous angiomas , 2007, The Lancet Neurology.

[3] C. Liquori,et al. Deletions in CCM2 are a common cause of cerebral cavernous malformations. , 2007, American journal of human genetics.

[4] E. Vicaut,et al. Genotype–phenotype correlations in cerebral cavernous malformations patients , 2006, Annals of neurology.

[5] M. Hadley,et al. The MRI appearance of cavernous malformations (angiomas). , 1987, Journal of neurosurgery.