Case Report: Hereditary transthyretin (ATTRv) amyloidosis: The p.G103R mutation of the transthyretin gene in a Han Chinese family is associated with vitreous hemorrhage

Hereditary transthyretin (ATTRv) amyloidosis is a rare disease caused by transthyretin gene (TTR) mutation. We identified that the p.G103R mutation of the TTR gene in a Han Chinese family was associated with vitreous hemorrhage. The proband was a 48-year-old woman who had progressive visual impairme...

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Detalles Bibliográficos
Autores principales: Shen, Junhui, Yu, Hao, Lin, Jijian, Zhang, Li, Pan, Xiaohong, Chen, Zhiqing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520364/
https://www.ncbi.nlm.nih.gov/pubmed/36186469
http://dx.doi.org/10.3389/fgene.2022.972501

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9520364/
https://www.ncbi.nlm.nih.gov/pubmed/36186469
http://dx.doi.org/10.3389/fgene.2022.972501

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