Výsledky vyhledávání - "Alonso Isabel"

Akademický článek

FXTAS is rare among Portuguese patients with movement disorders: FMR1 premutations may be associated with a wider spectrum of phenotypes

Autor: Coutinho Paula, Pinto-Basto Jorge, Fortuna Ana M, Alonso Isabel, Santos Rosário, Marques Isabel, Jorge Paula, Vale José, Seixas Ana I, Margolis Russell L, Sequeiros Jorge, Silveira Isabel

Publikováno v: Behavioral and Brain Functions, Vol 7, Iss 1, p 19 (2011)

Abstract The fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder caused by expansions of 55-200 CGG repeats in the 5'UTR of the FMR1 gene. These FMR1 premutation expansions have relatively high frequency in

Externí odkaz: https://doaj.org/article/84b7761f349e493f94684f9751b7a011

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