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Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations.
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; Cormand, B.
Affiliation
  • Toma C; 1] Department of Genetics, University of Barcelona, Barcelona, Spain [2] Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain.
  • Torrico B; 1] Department of Genetics, University of Barcelona, Barcelona, Spain [2] Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain.
  • Hervás A; Child and Adolescent Mental Health Unit, Hospital Universitari Mútua de Terrassa, Barcelona, Spain.
  • Valdés-Mas R; Department of Biochemistry and Molecular Biology, University of Oviedo-IUOPA, Barcelona, Spain.
  • Tristán-Noguero A; Department of Genetics, University of Barcelona, Barcelona, Spain.
  • Padillo V; Developmental Disorders Unit (UETD), Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • Maristany M; Developmental Disorders Unit (UETD), Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.
  • Salgado M; Child and Adolescent Mental Health Unit, Hospital Universitari Mútua de Terrassa, Barcelona, Spain.
  • Arenas C; Department of Statistics, University of Barcelona, Barcelona, Spain.
  • Puente XS; Department of Biochemistry and Molecular Biology, University of Oviedo-IUOPA, Barcelona, Spain.
  • Bayés M; National Centre for Genomic Analysis (CNAG), Barcelona, Spain.
  • Cormand B; 1] Department of Genetics, University of Barcelona, Barcelona, Spain [2] Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain [3] Institute of Biomedicine, University of Barcelona, Barcelona, Spain.
Mol Psychiatry ; 19(7): 784-90, 2014 Jul.
Article in En | MEDLINE | ID: mdl-23999528
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Genetic Predisposition to Disease / Intercellular Signaling Peptides and Proteins / 14-3-3 Proteins / Exome / Heterozygote / Mutation / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Mol Psychiatry Year: 2014 Document type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Autistic Disorder / Genetic Predisposition to Disease / Intercellular Signaling Peptides and Proteins / 14-3-3 Proteins / Exome / Heterozygote / Mutation / Nerve Tissue Proteins Type of study: Prognostic_studies Limits: Adult / Child / Child, preschool / Female / Humans / Male Language: En Journal: Mol Psychiatry Year: 2014 Document type: Article