Towards a Better Molecular Diagnosis of FMR1-Related Disorders—A Multiyear Experience from a Reference Lab

The article summarizes over 20 years of experience of a reference lab in fragile X mental retardation 1 gene (FMR1) molecular analysis in the molecular diagnosis of fragile X spectrum disorders. This includes fragile X syndrome (FXS), fragile X-associated primary ovarian insufficiency (FXPOI) and fr...

Descripción completa

Detalles Bibliográficos
Autores principales: Rzońca, Sylwia Olimpia, Gos, Monika, Szopa, Daniel, Sielska-Rotblum, Danuta, Landowska, Aleksandra, Szpecht-Potocka, Agnieszka, Milewski, Michał, Czekajska, Jolanta, Abramowicz, Anna, Obersztyn, Ewa, Maciejko, Dorota, Mazurczak, Tadeusz, Bal, Jerzy
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042390/
https://www.ncbi.nlm.nih.gov/pubmed/27598204
http://dx.doi.org/10.3390/genes7090059

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5042390/
https://www.ncbi.nlm.nih.gov/pubmed/27598204
http://dx.doi.org/10.3390/genes7090059

Ejemplares similares