title: Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.
authors.forename: A
authors.initials: A
authors.lastname: Tonelli
authors.forename: S
authors.initials: S
authors.lastname: Lanfranconi
authors.forename: A
authors.initials: A
authors.lastname: Bersano
authors.forename: S
authors.initials: S
authors.lastname: Corti
authors.forename: M T
authors.initials: MT
authors.lastname: Bassi
authors.forename: N
authors.initials: N
authors.lastname: Bresolin
mesh_terms: D000328:Adult; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D020786:Hemangioma, Cavernous, Central Nervous System / Q000235:genetics*; D006801:Humans; D007558:Italy; D008297:Male; D008875:Middle Aged; D009154:Mutation; D010375:Pedigree; D012326:RNA Splicing / Q000235:genetics*
chemical_list: C502544:CCM2 protein, human; D002352:Carrier Proteins