Article
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13.
Human molecular genetics - 1 Apr 2011
Çalışkan Minal, Chong Jessica X, Uricchio Lawrence, Anderson Rebecca, Chen Peixian, Sougnez Carrie, Garimella Kiran, Gabriel Stacey B, dePristo Mark A, Shakir Khalid, Matern Dietrich, Das Soma, Waggoner Darrel, Nicolae Dan L, Ober Carole
Abstract excerpt
Exome sequencing is a powerful tool for discovery of the Mendelian disease genes. Previously, we reported a novel locus for autosomal recessive non-syndromic mental retardation (NSMR) in a consanguineous family [Nolan, D.K., Chen, P., Das, S., Ober, C. and Waggoner, D. (2008) Fine mapping of a locus for nonsyndromic mental retardation on chromosome 19p13. Am. J. Med. Genet. A, 146A, 1414-1422]. Using linkage and...
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