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Ocular Involvement in Hereditary Transthyretin Amyloidosis: A Case Series Describing Novel Potential Biomarkers

Hereditary transthyretin amyloidosis (hATTR) is a rare disease caused by a point mutation in the transthyretin (TTR) gene and inherited in an autosomal dominant fashion. TTR is a plasma protein that functions as a carrier for thyroxine (T4) and retinol (vitamin A). Ophthalmological manifestations ar...

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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Minnella, Angelo Maria, Rissotto, Roberta, Maceroni, Martina, Romano, Angela, Fasciani, Romina, Luigetti, Marco, Sabatelli, Mario, Rizzo, Stanislao, Falsini, Benedetto
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8234990/
https://ncbi.nlm.nih.gov/pubmed/34207092
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12060927
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