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

Virpi Elisa Raivio, Jenni Jonasson, Liisa Myllykangas, Sirpa Ala-Mello, Minna Kankuri-Tammilehto, Sari Kiuru-Enari, Per Westermark, Maarit Tanskanen, Tero Kivela

Research output: Contribution to journalArticleScientificpeer-review

Original languageEnglish
JournalAmyloid
Volume23
Issue number1
Pages (from-to)46-50
Number of pages5
ISSN1350-6129
DOIs
Publication statusPublished - 2 Jan 2016
MoE publication typeA1 Journal article-refereed

Fields of Science

  • Intraocular opacity
  • point mutation
  • transthyretin
  • FAMILIAL AMYLOIDOSIS
  • GELSOLIN
  • POLYNEUROPATHY
  • FINNISH
  • 3111 Biomedicine

Cite this

Raivio, Virpi Elisa ; Jonasson, Jenni ; Myllykangas, Liisa ; Ala-Mello, Sirpa ; Kankuri-Tammilehto, Minna ; Kiuru-Enari, Sari ; Westermark, Per ; Tanskanen, Maarit ; Kivela, Tero. / A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome. In: Amyloid. 2016 ; Vol. 23, No. 1. pp. 46-50.
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author = "Raivio, {Virpi Elisa} and Jenni Jonasson and Liisa Myllykangas and Sirpa Ala-Mello and Minna Kankuri-Tammilehto and Sari Kiuru-Enari and Per Westermark and Maarit Tanskanen and Tero Kivela",
year = "2016",
month = "1",
day = "2",
doi = "10.3109/13506129.2015.1126574",
language = "English",
volume = "23",
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journal = "Amyloid",
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A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome. / Raivio, Virpi Elisa; Jonasson, Jenni; Myllykangas, Liisa; Ala-Mello, Sirpa; Kankuri-Tammilehto, Minna; Kiuru-Enari, Sari; Westermark, Per; Tanskanen, Maarit; Kivela, Tero.

In: Amyloid, Vol. 23, No. 1, 02.01.2016, p. 46-50.

Research output: Contribution to journalArticleScientificpeer-review

TY - JOUR

T1 - A novel transthyretin Lys70Glu (p.Lys90Glu) mutation presenting with vitreous amyloidosis and carpal tunnel syndrome

AU - Raivio, Virpi Elisa

AU - Jonasson, Jenni

AU - Myllykangas, Liisa

AU - Ala-Mello, Sirpa

AU - Kankuri-Tammilehto, Minna

AU - Kiuru-Enari, Sari

AU - Westermark, Per

AU - Tanskanen, Maarit

AU - Kivela, Tero

PY - 2016/1/2

Y1 - 2016/1/2

KW - Intraocular opacity

KW - point mutation

KW - transthyretin

KW - FAMILIAL AMYLOIDOSIS

KW - GELSOLIN

KW - POLYNEUROPATHY

KW - FINNISH

KW - 3111 Biomedicine

U2 - 10.3109/13506129.2015.1126574

DO - 10.3109/13506129.2015.1126574

M3 - Article

VL - 23

SP - 46

EP - 50

JO - Amyloid

JF - Amyloid

SN - 1350-6129

IS - 1

ER -