FXTAS IN AN UNMETHYLATED MOSAIC MALE WITH FRAGILE X SYNDROME FROM CHILE

Fragile X Syndrome is caused by expansion of CGG repeats to >200 in 5′-untranslated region of fragile X mental retardation 1 (FMR1) gene [full mutation (FM)]. Carriers of an FMR1 repeat expansion in premutation range (55–200 CGG repeats) often develop a syndrome similar to parkinsonism, designate...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Main Authors: María, Lorena Santa, Pugin, Angela, Alliende, M Angélica, Aliaga, Solange, Curotto, Bianca, Aravena, Teresa, Tang, Hiu-tung, Morales, Guadalupe Mendoza, Hagerman, Randi, Tassone, Flora
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4004716/
https://ncbi.nlm.nih.gov/pubmed/24028275
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/cge.12278
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados