Article
Homozygosity mapping of autosomal recessive intellectual disability loci in 11 consanguineous Pakistani families.
Acta neuropsychiatrica - 1 Feb 2015
Ahmed Iltaf, Rafiq Muhammad Arshad, Vincent John B, Bhatti Attya, Ayub Muhammad, John Peter
Abstract excerpt
BACKGROUND: Autosomal recessive intellectual disability (ID) is genetically heterogeneous and most of the genes causing it remain undiscovered. OBJECTIVE: We have ascertained 11 consanguineous families multiplex for IDs in order to identify new loci for autosomal recessive genes for non-syndromic ID, or to aid pinpointing mutations in known causative gene/loci. Methodology Microarray genotyping (Affymatrix 250K)...
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