p.Gly743Val Mutation in COL4A1 Is Responsible for Familial Porencephaly and Severe Hypermetropia

COL4A1 is an essential component for basal membrane stability. Exon mutations of the COL4A1 genes are responsible for a broad spectrum of cerebral, ocular, and systemic manifestations. We describe here the phenotype of a likely pathogenic gene variant, p.Gly743Val, which is responsible for a missens...

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Detalles Bibliográficos
Publicado en:Front Neurol
Autores principales: Scoppettuolo, Pasquale, Ligot, Noémie, Wermenbol, Vanessa, Van Bogaert, Patrick, Naeije, Gilles
Formato: Artigo
Lenguaje:Inglês
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC7516025/
https://ncbi.nlm.nih.gov/pubmed/33013618
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.00827
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