Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation

PURPOSE: Familial amyloidosis of the Finnish type (FAF) is an inherited amyloidosis arising from mutations in the gelsolin protein (GSN). The disease includes facial paralysis, loose skin, and lattice corneal dystrophy. To date, FAF has been invariably associated with substitution of Asp214 in GSN....

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Detalles Bibliográficos
Autores principales: Cabral-Macias, Jesus, Garcia-Montaño, Leopoldo A., Pérezpeña-Díazconti, Mario, Aguilar, Marisa-Cruz, Garcia, Guillermo, Vencedor-Meraz, Carlos I., Graue-Hernandez, Enrique O., Chacón-Camacho, Oscar F., Zenteno, Juan C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195602/
https://www.ncbi.nlm.nih.gov/pubmed/32368002

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7195602/
https://www.ncbi.nlm.nih.gov/pubmed/32368002

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