title: A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas.
authors.affiliation: Faculté de Médecine Lariboisière, Laboratoire de Génétique des Maladies Vasculaires, 10 Avenue de Verdun, EPI 99-21, 75010 Paris, Cedex, France. labauge@hotmail.com
authors.forename: Sophie Laberge-Le
authors.initials: SL
authors.lastname: Couteulx
authors.forename: Antoine P
authors.initials: AP
authors.lastname: Brézin
authors.forename: Bertrand
authors.initials: B
authors.lastname: Fontaine
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Tournier-Lasserve
authors.forename: Pierre
authors.initials: P
authors.lastname: Labauge
mesh_terms: D000328:Adult; D017089:Ankyrin Repeat / Q000235:genetics*; D001932:Brain Neoplasms / Q000235:genetics* / Q000473:pathology; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000032:analysis; D005260:Female; D005451:Fluorescein Angiography; D016368:Frameshift Mutation; D006392:Hemangioma, Cavernous / Q000235:genetics* / Q000473:pathology; D006801:Humans; D000075927:KRIT1 Protein; D008279:Magnetic Resonance Imaging; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D019572:Retinal Neoplasms / Q000235:genetics* / Q000473:pathology
chemical_list: D004273:DNA, Neoplasm; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins