KRIT1 mutations in three Japanese pedigrees with hereditary cavernous malformation

Cerebral cavernous malformation is a neurovascular abnormality that can cause seizures, focal neurological deficits and intracerebral hemorrhage. Familial forms of this condition are characterized by de novo formation of multiple lesions and are autosomal-dominantly inherited via CCM1/KRIT1, CCM2/MG...

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Detalhes bibliográficos
Publicado no:Hum Genome Var
Main Authors: Hirota, Kengo, Akagawa, Hiroyuki, Kikuchi, Asami, Oka, Hideki, Hino, Akihiko, Mitsuyama, Tetsuryu, Sasaki, Toshiyuki, Onda, Hideaki, Kawamata, Takakazu, Kasuya, Hidetoshi
Formato: Artigo
Idioma:Inglês
Publicado em: Nature Publishing Group 2016
Assuntos:
Data Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5052485/
https://ncbi.nlm.nih.gov/pubmed/27766163
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2016.32
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