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A novel deletion mutation in the TUSC3 gene in a consanguineous Pakistani family with autosomal recessive nonsyndromic intellectual disability

BACKGROUND: Intellectual disability (ID) is a serious disorder of the central nervous system with a prevalence of 1-3% in a general population. In the past decades, the research focus has been predominantly on X-linked ID (68 loci and 19 genes for non syndromic X linked ID) while for autosomal reces...

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Detalles Bibliográficos
Autores principales: Khan, Muzammil Ahmad, Rafiq, Muhammad Arshad, Noor, Abdul, Ali, Nadir, Ali, Ghazanfar, Vincent, John B, Ansar, Muhammad
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096909/
https://www.ncbi.nlm.nih.gov/pubmed/21513506
http://dx.doi.org/10.1186/1471-2350-12-56