Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis-Reference-Cited by-同舟云学术

Presence of val30Met and val122ile mutations in a patient with hereditary amyloidosis

Published:2020-04-09 Issue:8 Volume:65 Page:711-713
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

da Silva-Batista Jemima A.,Marques Jr Wilson,Oliveira Mayala Thayrine de J. S.,Lins Lucas Vergne C.,Galvão Adilson Junior P.,Miguel Diego Santana Chaves G.,Machado-Costa Marcela Câmara

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/s10038-020-0749-3.pdf

Reference12 articles.

1. Benson MD, Kincaid JC. The molecular biology and clinical features of amyloid neuropathy. Muscle Nerve. 2007;36:411–23.

2. Plante-Bordeneuve V, Said G. Familial amyloid polyneuropathy. Lancet Neurol. 2011;10:1086–97.

3. Sekijima Y. Transthyretin (ATTR) amyloidosis: clinical spectrum, molecular pathogenesis and disease-modifying treatments. J Neurol Neurosurg Psychiatry. 2015;86:1036–43.

4. Pinto MV, Barreira AA, Bulle AS, Freitas MRG, França MC Jr, Gondim FAA, et al. Brazilian consensus for diagnosis, management and treatment of transthyretin familial amyloid polyneuropathy. Arq Neuropsiquiatr. 2018;76:609–21.

5. Koike H, Tanaka F, Hashimoto R, Tomita M, Kawagashira Y, Iijima M, et al. Natural history of transthyretin Val30Met familial amyloid polyneuropathy: analysis of late-onset cases from non-endemic areas. J Neurol Neurosurg Psychiatry. 2012;83:152–8. https://doi.org/10.1136/jnnp-2011-301299.

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