Literature DB >> 1315718

Solid-phase minisequencing test reveals Asp187----Asn (G654----A) mutation of gelsolin in all affected individuals with Finnish type of familial amyloidosis.

T Paunio1, S Kiuru, V Hongell, E Mustonen, A C Syvänen, M Bengström, J Palo, L Peltonen.   

Abstract

Entities:  

Mesh：

Substances：

Year:  1992        PMID： 1315718     DOI： 10.1016/0888-7543(92)90235-k

Source DB:  PubMed          Journal:  Genomics        ISSN： 0888-7543            Impact factor:   5.736


× No keyword cloud information.
  6 in total

1.  Relation of gelsolin amyloidosis and periodontal health.

Authors:  Pirjo L Juusela; Rutger G Persson; Anja R Nieminen; Sari M Kiuru-Enari; Veli-Jukka Uitto
Journal:  Clin Oral Investig       Date:  2014-05-23       Impact factor: 3.573

2.  Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.

Authors:  Makiko Taira; Hiroyuki Ishiura; Jun Mitsui; Yuji Takahashi; Toshihiro Hayashi; Jun Shimizu; Takashi Matsukawa; Naoko Saito; Kazumasa Okada; Sadatoshi Tsuji; Hiromasa Sawamura; Shiro Amano; Jun Goto; Shoji Tsuji
Journal:  Neurogenetics       Date:  2012-05-24       Impact factor: 2.660

3.  Hereditary gelsolin amyloidosis mimicking Sjögren's syndrome.

Authors:  Pirjo Juusela; Maarit Tanskanen; Anja Nieminen; Veli-Jukka Uitto; Harri Blåfield; Sari Kiuru-Enari
Journal:  Clin Rheumatol       Date:  2009-08-23       Impact factor: 2.980

4.  Immunohistochemical analysis of lattice corneal dystrophies types I and II.

Authors:  T Kivelä; A Tarkkanen; I McLean; J Ghiso; B Frangione; M Haltia
Journal:  Br J Ophthalmol       Date:  1993-12       Impact factor: 4.638

5.  Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).

Authors:  R D Steiner; T Paunio; T Uemichi; J P Evans; M D Benson
Journal:  Hum Genet       Date:  1995-03       Impact factor: 4.132

6.  Subtle neuropsychiatric and neurocognitive changes in hereditary gelsolin amyloidosis (AGel amyloidosis).

Authors:  Mari Kantanen; Sari Kiuru-Enari; Oili Salonen; Markku Kaipainen; Laura Hokkanen
Journal:  PeerJ       Date:  2014-07-22       Impact factor: 2.984
  6 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.