Two Novel KRIT1 and CCM2 Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on CCM2 Penetrance

Wide comprehension of genetic features of cerebral cavernous malformations (CCM) represents the starting point to better manage patients and risk rating in relatives. The causative mutations spectrum is constantly growing. KRIT1, CCM2, and PDCD10 are the three loci to date linked to familial CCM dev...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Front Neurol
Autors principals: Scimone, Concetta, Donato, Luigi, Katsarou, Zoe, Bostantjopoulou, Sevasti, D'Angelo, Rosalia, Sidoti, Antonina
Format: Artigo
Idioma:Inglês
Publicat: Frontiers Media S.A. 2018
Matèries:
Neurology
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6246743/
https://ncbi.nlm.nih.gov/pubmed/30487773
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2018.00953
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars