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



: 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

: 2016

 Amyloid

: AMYLOID-JOURNAL OF PROTEIN FOLDING DISORDERS

: AMYLOID

: 23

: 1

: 46

: 50

: 5

: 1350-6129

DOI: https://doi.org/10.3109/13506129.2015.1126574


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 26/11/2024 05:41:08 PM