A1 Refereed original research article in a scientific journal

A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome



Authors: Raivio VE, Jonasson J, Myllykangas L, Ala-Mello S, Kankuri-Tammilehto M, Kiuru-Enari S, Westermark P, Tanskanen M, Kivela T

Publisher: TAYLOR & FRANCIS LTD

Publication year: 2016

Journal: Amyloid

Journal name in source: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

Journal acronym: AMYLOID

Volume: 23

Issue: 1

First page : 46

Last page: 50

Number of pages: 5

ISSN: 1350-6129

DOI: https://doi.org/10.3109/13506129.2015.1126574(external)


Abstract

Conclusion: We present a novel autosomally inherited Lys90Glu mutation in the TTR gene. This is the first reported FAP family with this mutation in Finland.




Last updated on 2024-26-11 at 17:41