FMR1 gene mutations in patients with fragile X syndrome and obligate carriers: 30 years of experience in Chile

Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and co-morbid autism. It is caused by an amplification of the CGG repeat (>200), which is known as the full mutation, within the 5′UTR of the FMR1 gene. Expansions between 55–200 CGG repeats are termed prem...

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Detalhes bibliográficos
Publicado no:Genet Res (Camb)
Main Authors: SANTA MARÍA, LORENA, ALIAGA, SOLANGE, FAUNDES, VÍCTOR, MORALES, PAULINA, PUGIN, ÁNGELA, CUROTTO, BIANCA, SOTO, PAULA, PEÑA, M. IGNACIA, SALAS, ISABEL, ALLIENDE, M. ANGÉLICA
Formato: Artigo
Idioma:Inglês
Publicado em: Cambridge University Press 2016
Assuntos:
Research Papers
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6865162/
https://ncbi.nlm.nih.gov/pubmed/27350105
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/S0016672316000082
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