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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...

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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

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