De Novo and Inherited Mutations in COL4A2, Encoding the Type IV Collagen α2 Chain Cause Porencephaly

Porencephaly is a neurological disorder characterized by fluid-filled cysts or cavities in the brain that often cause hemiplegia. It has been suggested that porencephalic cavities result from focal cerebral degeneration involving hemorrhages. De novo or inherited heterozygous mutations in COL4A1, wh...

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Detalhes bibliográficos
Main Authors: Yoneda, Yuriko, Haginoya, Kazuhiro, Arai, Hiroshi, Yamaoka, Shigeo, Tsurusaki, Yoshinori, Doi, Hiroshi, Miyake, Noriko, Yokochi, Kenji, Osaka, Hitoshi, Kato, Mitsuhiro, Matsumoto, Naomichi, Saitsu, Hirotomo
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2012
Assuntos:
Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3257897/
https://ncbi.nlm.nih.gov/pubmed/22209246
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.11.016
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