Epidemiological and clinical characteristics of persons with transthyretin hereditary amyloid polyneuropathy: a global synthesis of 532 cases

Autor:	Michelle Stewart, Leslie Amass, Marc F. Botteman, Avijeet S. Chopra, Shari Fallet, John A. Carter, Markay Hopps, Márcia Waddington Cruz, Hartmut Schmidt
Rok vydání:	2017
Předmět:	0301 basic medicine Adult Male medicine.medical_specialty Databases Factual 030105 genetics & heredity Amyloid Neuropathies 03 medical and health sciences chemistry.chemical_compound 0302 clinical medicine Epidemiology Internal Medicine Medicine Humans Prealbumin Aged Genetics Amyloid Neuropathies Familial Methionine biology business.industry nutritional and metabolic diseases Middle Aged Transthyretin chemistry Mutation (genetic algorithm) biology.protein Amyloid polyneuropathy Female business 030217 neurology & neurosurgery
Zdroj:	Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis. 24(sup1)
ISSN:	1744-2818
Popis:	Transthyretin hereditary (familial) amyloid polyneuropathy (TTR-FAP) was first identified in Portugal in 1952 [1]. In 1984, the first report of a causative mutation – substitution of methionine for...
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c791139a8a8e63eefea23af0d0880e48 https://pubmed.ncbi.nlm.nih.gov/28434345 Zobrazit plný text záznamu