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Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in ...

Lacerda, Pedro C.; Moreira, Luciana; Vitorino, Rui; Costa, Paulo P.

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 polyneuropathy and multiple organ dysfunction. Liver transplantation is the main therapeutic option,as it virtually eliminate...

Date: 2015   |   Origin: Repositório Científico do Instituto Nacional de Saúde
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