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Publicação
Use of MALDI-TOF Mass Spectrometry to Assay the Transthyretin V30M Mutation in Serum From a Liver Transplant Donor
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Orientador(es)
Resumo(s)
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 eliminates the production of circulating TTR
V30M, which occurs predominantly in the liver.
Descrição
Palavras-chave
Hereditary Amyloidosis ATTR Amyloidosis TTR V30M Mass Spectrometry MALDI-TOF Molecular biology Transplantation surgery Doenças Genéticas Determinantes da Saúde e da Doença
Contexto Educativo
Citação
Transplantation. 2015 May;99(5):e33-4. doi: 10.1097/TP.0000000000000658.
Editora
Lippincott, Williams & Wilkins/ Transplantation Society