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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,...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
John Wiley and Sons Inc.
2018
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| Materias: | |
| 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 |