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Molecular Diagnosis of Fragile X Syndrome in Subjects with Intellectual Disability of Unknown Origin: Implications of Its Prevalence in Regional Pakistan

Fragile-X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and affects 0.7–3.0% of intellectually compromised population of unknown etiology worldwide. It is mostly caused by repeat expansion mutations in the FMR1 at chromosome Xq27.3. The present study aimed to devel...

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Detalles Bibliográficos
Autores principales: Kanwal, Madiha, Alyas, Saadia, Afzal, Muhammad, Mansoor, Atika, Abbasi, Rashda, Tassone, Flora, Malik, Sajid, Mazhar, Kehkashan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4396850/
https://www.ncbi.nlm.nih.gov/pubmed/25875842
http://dx.doi.org/10.1371/journal.pone.0122213