Absence of AGG Interruptions Is a Risk Factor for Full Mutation Expansion Among Israeli FMR1 Premutation Carriers

Introduction: Fragile X syndrome (FXS) is a common form of X-linked intellectual and developmental disability with a prevalence of 1/4000–5000 in males and 1/6000–8000 in females. Most cases of the syndrome result from expansion of a premutation (55–200 CGGs) to a full mutation (>200 CGGs) repeat...

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Опубликовано в: :Front Genet
Главные авторы: Domniz, Noam, Ries-Levavi, Liat, Cohen, Yoram, Marom-Haham, Lilach, Berkenstadt, Michal, Pras, Elon, Glicksman, Anne, Tortora, Nicole, Latham, Gary J., Hadd, Andrew G., Nolin, Sarah L., Elizur, Shai E.
Формат: Artigo
Язык:Inglês
Опубликовано: Frontiers Media S.A. 2018
Предметы:
Genetics
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6300753/
https://ncbi.nlm.nih.gov/pubmed/30619448
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2018.00606
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