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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...
Autores principales: | Minnella, Angelo Maria, Rissotto, Roberta, Maceroni, Martina, Romano, Angela, Fasciani, Romina, Luigetti, Marco, Sabatelli, Mario, Rizzo, Stanislao, Falsini, Benedetto |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8234990/ https://www.ncbi.nlm.nih.gov/pubmed/34207092 http://dx.doi.org/10.3390/genes12060927 |
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