A transthyretin variant (alanine 71) associated with familial amyloidotic polyneuropathy in a French family.

A transthyretin (TTR) mutation is described in a 44 year old French woman from Caen who presented at the age of 40 with neuropathy in all four extremities, diarrhoea, and orthostatic hypotension. Her father died with a similar syndrome including vitreous opacities. A nerve biopsy from the proband sh...

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Bibliografske podrobnosti
Main Authors: Benson, M D, Turpin, J C, Lucotte, G, Zeldenrust, S, LeChevalier, B
Format: Artigo
Jezik:Inglês
Izdano: 1993
Teme:
Research Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC1016267/
https://ncbi.nlm.nih.gov/pubmed/8095302
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