Ocular Manifestations in a Chinese Pedigree of Familial Amyloidotic Polyneuropathy Carrying the Transthyretin Mutation c.401A>G (p.Tyr134Cys)

Familial amyloid polyneuropathy (FAP) caused by a genetic mutation in transthyretin (TTR) is an autosomal dominant hereditary disease. The retrospective, observational case series study presents the ocular clinicopathological findings of five cases carrying the TTR mutation c.401A>G (p.Tyr134Cys)...

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Detalles Bibliográficos
Autores principales: Zhuang, Xiaonan, Sun, Zhongcui, Gao, Fengjuan, Wang, Min, Tang, Wenyi, Liu, Wei, Wang, Keyan, Wu, Jihong, Jiang, Rui, Xu, Gezhi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140613/
https://www.ncbi.nlm.nih.gov/pubmed/35627273
http://dx.doi.org/10.3390/genes13050886

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9140613/
https://www.ncbi.nlm.nih.gov/pubmed/35627273
http://dx.doi.org/10.3390/genes13050886

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