Novel Transthyretin Gene Mutation in Familial Amyloid Neuropathy in India: Case

Familial amyloid polyneuropathy (PN), also known as amyloid transthyretin (TTR)-PN is an autosomal dominant adult-onset fatal disease, if not treated. It occurs due to mutations in (TTR) gene which leads to a faulty TTR protein which folds up to form amyloid and gets deposited mainly on nerves and c...

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Detalles Bibliográficos
Autores principales: Rohatgi, Shalesh, Nirhale, Satish, Manohar, Poonkodi, Rao, Prajwal, Naphade, Pravin, Khan, Furqan Mohd. Akram, Dave, Dhaval, Sravya Kotaru, V.V., Gupta, Sahil, Gitay, Advait, Dubey, Prashant
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9671187/
https://www.ncbi.nlm.nih.gov/pubmed/36204920
http://dx.doi.org/10.4103/aam.aam_260_21

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