Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene-Reference-Cited by-同舟云学术

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Familial amyloid polyneuropathy associated with TTRSer50Arg mutation in two Iberian families presenting a novel single base change in the mutant gene

Published:2007-01-01 Issue:2 Volume:14 Page:147-152
ISSN:1350-6129
Container-title:Amyloid
language:en
Short-container-title:Amyloid

Author:

Munar-Qués Miguel¹,Masjuan Jaime²,Coelho Teresa³,Moreira Paul⁴,Viader-Farré Carlos¹,Saraiva María J. M.⁴

Affiliation:

1. Grupo de Estudio de la PAF, Majorca, Spain

2. Servicio de Neurología, Hospital Ramón y Cajal, Madrid, Spain

3. Unidade Clínica de Paramiloidose and Serviço de Neurofisiologia, Hospital Geral Santo António, Porto, Portugal

4. Amyloid Unit, IBMC and ICBAS, Universidade do Porto, Portugal

Publisher

Informa UK Limited

Subject

Internal Medicine

Link

https://www.tandfonline.com/doi/pdf/10.1080/13506120701259580

Reference9 articles.

1. Tabulation of human transthyretin (TTR) variants, 2003

2. Two novel variants of transthyretin identified in Japanese cases with familial amyloidotic polyneuropathy: Transthyretin (Glu42 to Gly) and transthyretin (Ser50 to Arg)

3. Amyloid polyneuropathy with transthyretin Arg50 in a Japanese case from Osaka

4. Transthyretin gene analysis in European patients with suspected familial amyloid polyneuropathy

5. Restrictive Cardiomyopathy in Familial Amyloidosis TTR-Arg-50

Cited by 5 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management;Clinical Autonomic Research;2019-08-26

2. Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases;Orphanet Journal of Rare Diseases;2018-07-03

3. Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy;Amyloid;2013-09-20

4. Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation;Amyloid;2012-08-28

5. A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation;Internal Medicine;2010

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