TY  - JOUR
AU  - Mondejar, R
AU  - Lucas, M
PY  - 2015
DO  - 10.1016/j.nrl.2015.07.001
UR  - http://hdl.handle.net/10668/10127
T2  - Neurologia (Barcelona, Spain)
AB  - Cerebral cavernous malformations (CCMs; OMIM 116860) are enlarged vascular cavities without intervening brain parenchyma whose estimated prevalence in the general population is between 0.1% and 0.5%. Familial CCM is an autosomal dominant disease with...
LA  - en
KW  - CCM1
KW  - CCM2
KW  - CCM3
KW  - Cavernomatosis cerebral
KW  - Cerebral cavernous malformations
KW  - DNA sequencing
KW  - Multiplex ligation-dependent probe analysis
KW  - Secuenciación
KW  - Apoptosis Regulatory Proteins
KW  - Carrier Proteins
KW  - DNA Copy Number Variations
KW  - Genetic Testing
KW  - Hemangioma, Cavernous, Central Nervous System
KW  - Humans
KW  - KRIT1 Protein
KW  - Membrane Proteins
KW  - Mutation
KW  - Proto-Oncogene Proteins
TI  - Molecular diagnosis in cerebral cavernous malformations.
T2  - Diagnóstico molecular de cavernomatosis cerebral.
TY  - research article
VL  - 32
ER  -