Familial cerebral cavernous malformations associated with a splice-site CCM2 deletion.
Jiménez-Huete
Adolfo
A
Hortigüela
Rafael
R
Riva
Elena
E
Bernar
Juan
J
Guardado Santervás
Pedro
P
Esteban
Jesús
J
Franch
Oriol
O
Calero
Miguel
M
D000368:Aged; D001921:Brain / Q000473:pathology*; D002352:Carrier Proteins / Q000235:genetics*; D002426:Cavernous Sinus / Q000473:pathology*; D005190:Family; D006801:Humans; D002538:Intracranial Arteriovenous Malformations / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology*; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D017384:Sequence Deletion
C502544:CCM2 protein, human; D002352:Carrier Proteins