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Cascade Screening for Fragile X Syndrome/CGG Repeat Expansions in Children Attending Special Education in Sri Lanka

Fragile X syndrome (FXS) is the commonest cause of inherited mental retardation and clinically presents with learning, emotional and behaviour problems. FXS is caused by expansion of cytosine-guanine-guanine (CGG) repeats present in the 5’ untranslated region of the FMR1 gene. The aim of this study...

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Detalles Bibliográficos
Autores principales: Chandrasekara, C. H. W. M. R. Bhagya, Wijesundera, W. S. Sulochana, Perera, Hemamali N., Chong, Samuel S., Rajan-Babu, Indhu-Shree
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4687912/
https://www.ncbi.nlm.nih.gov/pubmed/26694146
http://dx.doi.org/10.1371/journal.pone.0145537