Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating muta...
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
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Author / Creator
Toma, C , Torrico, B , Hervás, A , Valdés-Mas, R , Tristán-Noguero, A , Padillo, V , Maristany, M , Salgado, M , Arenas, C , Puente, X S , Bayés, M and Cormand, B
Publisher
London: Nature Publishing Group UK
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Language
English
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Publication information
Publisher
London: Nature Publishing Group UK
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Scope and Contents
Contents
Autism is a severe neurodevelopmental disorder, the aetiology of which remains mainly unknown. Family and twin studies provide strong evidence that genetic factors have a major role in the aetiology of this disease. Recently, whole exome sequencing (WES) efforts have focused mainly on rare
de novo
variants in singleton families. Although thes...
Alternative Titles
Full title
Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
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TN_cdi_proquest_miscellaneous_1554950632
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_1554950632
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ISSN
1359-4184
E-ISSN
1476-5578
DOI
10.1038/mp.2013.106
