Fragile X protein in newborn dried blood spots

BACKGROUND: The fragile X syndrome (FXS) results from mutation of the FMR1 gene that prevents expression of its gene product, FMRP. We previously characterized 215 dried blood spots (DBS) representing different FMR1 genotypes and ages with a Luminex-based immunoassay (qFMRP). We found variable FMRP...

Descripción completa

Detalles Bibliográficos
Autores principales: Adayev, Tatyana, LaFauci, Giuseppe, Dobkin, Carl, Caggana, Michele, Wiley, Veronica, Field, Michael, Wotton, Tiffany, Kascsak, Richard, Nolin, Sarah L, Glicksman, Anne, Hosmer, Nicole, Brown, W Ted
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2014
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412103/
https://www.ncbi.nlm.nih.gov/pubmed/25348928
http://dx.doi.org/10.1186/s12881-014-0119-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4412103/
https://www.ncbi.nlm.nih.gov/pubmed/25348928
http://dx.doi.org/10.1186/s12881-014-0119-0

Ejemplares similares