A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family

OBJECTIVES: In this study, we report a case of Finnish gelsolin amyloidosis (FGA) in a Chinese family. METHODS: The proband presented with a range of clinical symptoms that included epileptic seizures and multiple lesions in the brain. Whole exome sequencing of the Gelsolin (GSN) gene was performed,...

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Detalles Bibliográficos
Autores principales: Feng, Xuemin, Zhu, Hui, Zhao, Teng, Hou, Yanbo, Liu, Jingyao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Original Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305910/
https://www.ncbi.nlm.nih.gov/pubmed/30417985
http://dx.doi.org/10.1002/brb3.1151

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6305910/
https://www.ncbi.nlm.nih.gov/pubmed/30417985
http://dx.doi.org/10.1002/brb3.1151

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