Aberrant splicing due to a silent nucleotide change in CCM2 gene in a family with cerebral cavernous malformation.
Tonelli
A
A
Lanfranconi
S
S
Bersano
A
A
Corti
S
S
Bassi
M T
MT
Bresolin
N
N
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*
C502544:CCM2 protein, human; D002352:Carrier Proteins