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Amyloid
The Journal of Protein Folding Disorders
Volume 14, 2007 - Issue 2
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Original

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

Miguel Munar-Qués Grupo de Estudio de la PAF, Majorca, SpainCorrespondence[email protected]
,
Jaime Masjuan Servicio de Neurología, Hospital Ramón y Cajal, Madrid, Spain
,
Teresa Coelho Unidade Clínica de Paramiloidose and Serviço de Neurofisiologia, Hospital Geral Santo António, Porto, Portugal
,
Paul Moreira Amyloid Unit, IBMC and ICBAS, Universidade do Porto, Portugal
,
Carlos Viader-Farré Grupo de Estudio de la PAF, Majorca, Spain
&
María J. M. Saraiva Amyloid Unit, IBMC and ICBAS, Universidade do Porto, Portugal
Pages 147-152 | Published online: 06 Jul 2009

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Read on this site (2)

Alejandra González-Duarte, Mónica Lem-Carrillo & Karla Cárdenas-Soto. (2013) Description of transthyretin S50A, S52P and G47A mutations in familial amyloidosis polyneuropathy. Amyloid 20:4, pages 221-225.
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Alejandra González-Duarte, Karla Cárdenas Soto, Deborah Martínez-Baños, Jazmin Arteaga-Vazquez, Fausto Barrera, Mauricio Berenguer-Sanchez, Carlos Cantu-Brito, Guillermo García-Ramos & Bruno Estañol Vidal. (2012) Familial amyloidosis with polyneuropathy associated with TTR Ser50Arg mutation. Amyloid 19:4, pages 171-176.
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Articles from other publishers (3)

Jose-Alberto Palma, Alejandra Gonzalez-Duarte & Horacio Kaufmann. (2019) Orthostatic hypotension in hereditary transthyretin amyloidosis: epidemiology, diagnosis and management. Clinical Autonomic Research 29:S1, pages 33-44.
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Alejandra González-Duarte, Karla Cárdenas-Soto, Carlo Enrico Bañuelos, Omar Fueyo, Carolina Dominguez, Benjamín Torres & Carlos Cantú-Brito. (2018) Amyloidosis due to TTR mutations in Mexico with 4 distincts genotypes in the index cases. Orphanet Journal of Rare Diseases 13:1.
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Yuichiro Shirota, Atsushi Iwata, Hiroyuki Ishiura, Meiko Hashimoto, Jun Goto, Jun Shimizu, Ritsuko Hanajima, Jun Nakajima, Yutaka Takazawa & Shoji Tsuji. (2010) A Case of Atypical Amyloid Polyneuropathy with Predominant Upper-limb Involvement with the Diagnosis Unexpectedly Found at Lung Operation. Internal Medicine 49:15, pages 1627-1631.
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