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A Mouse Model of the Human Fragile X Syndrome I304N Mutation

The mental retardation, autistic features, and behavioral abnormalities characteristic of the Fragile X mental retardation syndrome result from the loss of function of the RNA–binding protein FMRP. The disease is usually caused by a triplet repeat expansion in the 5′UTR of the FMR1 gene. This leads...

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Detalles Bibliográficos
Autores principales: Zang, Julie B., Nosyreva, Elena D., Spencer, Corinne M., Volk, Lenora J., Musunuru, Kiran, Zhong, Ru, Stone, Elizabeth F., Yuva-Paylor, Lisa A., Huber, Kimberly M., Paylor, Richard, Darnell, Jennifer C., Darnell, Robert B.
Formato: Texto
Lenguaje:English
Publicado: Public Library of Science 2009
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2779495/
https://www.ncbi.nlm.nih.gov/pubmed/20011099
http://dx.doi.org/10.1371/journal.pgen.1000758