New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden.
作者： Farida Gorram , Malin Olsson , Flora Alarcon , Gregory Nuel , Intissar Anan
DOI: 10.1080/13506129.2020.1841623
关键词: Gene 、 Transthyretin 、 Penetrance 、 Peripheral neuropathy 、 Amyloidosis 、 Genetics 、 Amyloid polyneuropathy 、 Medicine 、 Autosomal dominant transmission 、 Genetic profile
摘要: Hereditary transthyretin (ATTRv) amyloidosis is of autosomal dominant transmission, caused by a spectrum mutations in the (TTR) gene. The ATTRV30M (p.Val50Met) most frequent...
sci-hub.st 参考文章(31)
Rune Andersson, Familial amyloidosis with polyneuropathy. A clinical study based on patients living in northern Sweden. Acta Medica Scandinavica. ,vol. 590, pp. 1- 64 ,(1976)
G Holmgren, P M Costa, C Andersson, K Asplund, L Steen, L Beckman, P O Nylander, A Teixeira, M J Saraiva, P P Costa, Geographical distribution of TTR met30 carriers in northern Sweden: discrepancy between carrier frequency and prevalence rate. Journal of Medical Genetics. ,vol. 31, pp. 351- 354 ,(1994) , 10.1136/JMG.31.5.351
Honey V. Reddi, Sarah Jenkins, Jason Theis, Brittany C. Thomas, Lawreen H. Connors, Frits Van Rhee, W. Edward Highsmith, Homozygosity for the V122I Mutation in Transthyretin Is Associated with Earlier Onset of Cardiac Amyloidosis in the African American Population in the Seventh Decade of Life The Journal of Molecular Diagnostics. ,vol. 16, pp. 68- 74 ,(2014) , 10.1016/J.JMOLDX.2013.08.001
K. Misu, N. Hattori, Y. Ando, S. Ikeda, G. Sobue, Anticipation in early- but not late-onset familial amyloid polyneuropathy (TTR met 30) in Japan. Neurology. ,vol. 55, pp. 451- 452 ,(2000) , 10.1212/WNL.55.3.451-A
G. Holmgren, E. Haettner, I. Nordenson, O. Sandgren, L. Steen, E. Lundgren, Homozygosity for the transthyretin-met30-gene in two Swedish sibs with familial amyloidotic polyneuropathy Clinical Genetics. ,vol. 34, pp. 333- 338 ,(2008) , 10.1111/J.1399-0004.1988.TB02887.X
M Olsson, U Hellman, V Planté-Bordeneuve, J Jonasson, K Lång, OB Suhr, Mitochondrial haplogroup is associated with the phenotype of familial amyloidosis with polyneuropathy in Swedish and French patients Clinical Genetics. ,vol. 75, pp. 163- 168 ,(2009) , 10.1111/J.1399-0004.2008.01097.X
Bernard Bonaïti, Flora Alarcon, Catherine Bonaïti-Pellié, Violaine Planté-Bordeneuve, Parent-of-origin effect in transthyretin related amyloid polyneuropathy Amyloid. ,vol. 16, pp. 149- 150 ,(2009) , 10.1080/13506120903093944
S. Araki, S. Mawatari, M. Ohta, A. Nakajima, Y. Kuroiwa, Polyneuritic Amyloidosis in a Japanese Family JAMA Neurology. ,vol. 18, pp. 593- 602 ,(1968) , 10.1001/ARCHNEUR.1968.00470360015001
Gōsta Holmgren, Sven Bergström, Ulf Drugge, Erik Lundgren, Carin Nording-Sikström, Ola Sandgren, Lars Steen, Homozygosity for the transthyretin-Met30-gene in seven individuals with familial amyloidosis with polyneuropathy detected by restriction enzyme analysis of amplified genomic DNA sequences Clinical Genetics. ,vol. 41, pp. 39- 41 ,(2008) , 10.1111/J.1399-0004.1992.TB03627.X
Malin Olsson, Jenni Jonasson, Kristina Cederquist, Ole B. Suhr, Frequency of the transthyretin Val30Met mutation in the northern Swedish population Amyloid. ,vol. 21, pp. 18- 20 ,(2014) , 10.3109/13506129.2013.860027