Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations
- Author
- TOMA, C1 2 ; TORRICO, B1 2 ; BAYES, M7 ; CORMAND, B1 2 8 ; HERVAS, A3 ; VALDES-MAS, R4 ; TRISTAN-NOGUERO, A1 ; PADILLO, V5 ; MARISTANY, M5 ; SALGADO, M3 ; ARENAS, C6 ; PUENTE, X. S4
[1] Department of Genetics, University of Barcelona, Barcelona, Spain
[2] Biomedical Network Research Centre on Rare Diseases (CIBERER), Barcelona, Spain
[3] Child and Adolescent Mental Health Unit, Hospital Universitari Mútua de Terrassa, Barcelona, Spain
[4] Department of Biochemistry and Molecular Biology, University of Oviedo-IUOPA, Barcelona, Spain
[5] Developmental Disorders Unit (UETD), Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain
[6] Department of Statistics, University of Barcelona, Barcelona, Spain
[7] National Centre for Genomic Analysis (CNAG), Barcelona, Spain
[8] Institute of Biomedicine, University of Barcelona, Barcelona, Spain - Source
Molecular psychiatry. 2014, Vol 19, Num 7, pp 784-790, 7 p ; ref : 45 ref
- ISSN
- 1359-4184
- Scientific domain
- Biochemistry, molecular biology, biophysics; Cognition; Psychology, psychopathology, psychiatry
- Publisher
- Nature Publishing Group, Basingstoke
- Publication country
- United Kingdom
- Document type
- Article
- Language
- English
- Author keyword
- autism spectrum disorder exome sequencing multiplex families novel candidate genes rare genetic variants truncating mutations
- Keyword (fr)
- Autisme Gène candidat Milieu familial Mutation Trouble envahissant du développement Variant génétique Trouble du spectre autistique Déterminisme génétique Environnement social Génétique Trouble du développement
- Keyword (en)
- Autism Candidate gene Family environment Mutation Pervasive developmental disorder Genetic variant Autism spectrum disorder Genetic determinism Social environment Genetics Developmental disorder
- Keyword (es)
- Autismo Gen candidato Medio familiar Mutación Disturbio invasor del desarrollo Variante genética Trastorno del espectro autista Determinismo genético Contexto social Genética Trastorno desarrollo
- Classification
- Pascal
- 002 Biological and medical sciences / 002B Medical sciences / 002B18 Psychopathology. Psychiatry / 002B18D Child clinical studies / 002B18D04 Developmental disorders / 002B18D04B Infantile autism
- Francis
- 770 Psychology. Psychoanalysis. Psychiatry / 770-D Psychopathology. Psychiatry / 770-D04 Child clinical studies / 770-D04D Developmental disorders / 770-D04D02 Infantile autism
- Discipline
- Psychopathology. Psychiatry. Clinical psychology
- Origin
- Inist-CNRS
- Database
- FRANCIS ; PASCAL
- INIST identifier
- 28641619
Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS
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DOI
10.1038/mp.2013.106 
https://dx.doi.org/10.1038/mp.2013.106
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