A novel KRIT1/CCM1 truncating mutation in a patient with cerebral and retinal cavernous angiomas.
Couteulx
Sophie Laberge-Le
SL
Faculté de Médecine Lariboisière, Laboratoire de Génétique des Maladies Vasculaires, 10 Avenue de Verdun, EPI 99-21, 75010 Paris, Cedex, France. labauge@hotmail.com
Brézin
Antoine P
AP
Fontaine
Bertrand
B
Tournier-Lasserve
Elisabeth
E
Labauge
Pierre
P
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
D004273:DNA, Neoplasm; D000075927:KRIT1 Protein; C107928:KRIT1 protein, human; D008869:Microtubule-Associated Proteins; D011518:Proto-Oncogene Proteins