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Vitreous amyloidosis with autonomic neuropathy of the digestive tract associated with a novel transthyretin p.Gly87Arg variant in a Bangladeshi patient: a case report
BACKGROUND: Hereditary transthyretin amyloidosis is an autosomal dominant inherited disorder, first described in families with sensorimotor and autonomic neuropathy. Since its first description, more than 120 amyloidogenic transthyretin mutations have been reported with various geographic distributi...
Autores principales: | Terrier, Benjamin, Colombat, Magali, Beugnet, Caroline, Quéant, Astrid, London, Jonathan, Daudin, Jean-Baptiste, Le Jeunne, Claire, Mouthon, Luc, Monnet, Dominique, Cauquil, Cécile, Lacroix, Catherine, Adams, David, Brézin, Antoine, Valleix, Sophie |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2017
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554541/ https://www.ncbi.nlm.nih.gov/pubmed/28802308 http://dx.doi.org/10.1186/s13256-017-1407-z |
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