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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...

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Detalles Bibliográficos
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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2017
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