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TTR Gly83Arg Mutation: Beyond Familial Vitreous Amyloidosis

BACKGROUND: Gly83Arg variation is a type of TTR mutation specific to the Chinese population. Patients of hereditary transthyretin amyloidosis (ATTR) with Gly83Arg variation predominantly present with blurred vision and most of these cases are reported by ophthalmologists. There is currently no syste...

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Detalles Bibliográficos
Autores principales: Li, Zhenxian, Du, Kang, Chu, Xujun, Lv, He, Zhang, Wei, Wang, Zhaoxia, Yuan, Yun, Meng, Lingchao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8850374/
https://www.ncbi.nlm.nih.gov/pubmed/35185758
http://dx.doi.org/10.3389/fneur.2021.821003