Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor

Familial amyloidotic polyneuropathy (FAP), Portuguese type, or ATTR V30M is an autosomal dominant inherited disorder caused by a mutation in the transthyretin gene, with a valine/methionine substitution at position 30 (TTRV30M). ATTRV30Mis characterized by a progressive sensory/autonomic polyneuropa...

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Detalhes bibliográficos
Autor principal: Lacerda, Pedro C. (author)
Outros Autores: Moreira, Luciana (author), Vitorino, Rui (author), Costa, Paulo P. (author)
Formato: article
Idioma:eng
Publicado em: 2016
Assuntos:
Hereditary Amyloidosis
ATTR Amyloidosis
TTR V30M
Mass Spectrometry
MALDI-TOF
Molecular biology
Transplantation surgery
Doenças Genéticas
Determinantes da Saúde e da Doença
Texto completo:http://hdl.handle.net/10400.18/3295
País:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3295

Texto Completo

http://hdl.handle.net/10400.18/3295

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