Article
Mutation in NSUN2, which encodes an RNA methyltransferase, causes autosomal-recessive intellectual disability.
American journal of human genetics - 4 May 2012
Khan Muzammil Ahmad, Rafiq Muhammad Arshad, Noor Abdul, Hussain Shobbir, Flores Joana V, Rupp Verena, Vincent Akshita K, Malli Roland, Ali Ghazanfar, Khan Falak Sher, Ishak Gisele E, Doherty Dan, Weksberg Rosanna, Ayub Muhammad, Windpassinger Christian, Ibrahim Shahnaz, Frye Michaela, Ansar Muhammad, Vincent John B
Abstract excerpt
Causes of autosomal-recessive intellectual disability (ID) have, until very recently, been under researched because of the high degree of genetic heterogeneity. However, now that genome-wide approaches can be applied to single multiplex consanguineous families, the identification of genes harboring disease-causing mutations by autozygosity mapping is expanding rapidly. Here, we have mapped a disease locus in a...
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