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Single-Nucleotide Mutations in FMR1 Reveal Novel Functions and Regulatory Mechanisms of the Fragile X Syndrome Protein FMRP

Fragile X syndrome is a monogenic disorder and a common cause of intellectual disability. Despite nearly 25 years of research on FMR1, the gene underlying the syndrome, very few pathological mutations other than the typical CGG-repeat expansion have been reported. This is in contrast to other X-link...

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Detalles Bibliográficos
Autores principales: Suhl, Joshua A., Warren, Stephen T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Libertas Academica 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720182/
https://www.ncbi.nlm.nih.gov/pubmed/26819560
http://dx.doi.org/10.4137/JEN.S25524