Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13

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...

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Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: Oxford University Press 2011
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Articles
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC3115579/
https://ncbi.nlm.nih.gov/pubmed/21212097
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddq569
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