FMR1 CGG allele size and prevalence ascertained through newborn screening in the United States

BACKGROUND: Population screening for FMR1 mutations has been a topic of considerable discussion since the FMR1 gene was identified in 1991. Advances in understanding the molecular basis of fragile X syndrome (FXS) and in genetic testing methods have led to new, less expensive methodology to use for...

Descripción completa

Detalles Bibliográficos
Autores principales: Tassone, Flora, Iong, Ka Pou, Tong, Tzu-Han, Lo, Joyce, Gane, Louise W, Berry-Kravis, Elizabeth, Nguyen, Danh, Mu, Lisa Y, Laffin, Jennifer, Bailey, Don B, Hagerman, Randi J
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2012
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4064316/
https://www.ncbi.nlm.nih.gov/pubmed/23259642
http://dx.doi.org/10.1186/gm401

Ejemplares similares

Ejemplares similares