Exome sequencing in multiplex autism families suggests a major role for heterozygous truncating mutations

Molecular Psychiatry

Volumn 19, Issue 7, 2014, Pages 784-790

  Toma, C ^a,b   Torrico, B ^a,b   Hervas A ^c   Valdes Mas R ^d   Tristan Noguero A ^a   Padillo, V ^e   Maristany, M ^e   Salgado, M ^c   Arenas, C ^a   Puente, X S ^d   Bayes M ^f   Cormand, B ^a,b  

^a UNIVERSITY OF BARCELONA   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c HOSPITAL MÚTUA DE TERRASSA   (Spain)

^d UNIVERSITY OF OVIEDO   (Spain)

^e HOSPITAL SANT JOAN DE DÉU   (Spain)

^f Algorithm Development Group   (Spain)

Author keywords

autism spectrum disorder; exome sequencing; multiplex families; novel candidate genes; rare genetic variants; truncating mutations

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR ALPHA4; DISRUPTED IN SCHIZOPHRENIA 1 PROTEIN; FRAGILE HISTIDINE TRIAD PROTEIN; POTASSIUM CHANNEL KCNQ3; SCATTER FACTOR RECEPTOR; SODIUM CHANNEL NAV1.1; TRANSCRIPTION FACTOR PAX3; TUBERIN; COLLAPSIN RESPONSE MEDIATOR PROTEIN-2; NERVE PROTEIN; PROTEIN 14 3 3; SIGNAL PEPTIDE; YWHAZ PROTEIN, HUMAN;

ADOLESCENT; ADULT; ARTICLE; AUTISM; CHILD; CLINICAL ARTICLE; EXOME; FEMALE; GENE MUTATION; GENE SEQUENCE; GENETIC VARIABILITY; HETEROZYGOSITY; HUMAN; INDEL MUTATION; INTELLIGENCE QUOTIENT; MALE; NONSENSE MUTATION; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; START CODON; GENETIC DATABASE; GENETIC PREDISPOSITION; GENETICS; HETEROZYGOTE; INTELLIGENCE; MUTATION; PRESCHOOL CHILD; YOUNG ADULT;

14-3-3 PROTEINS; AUTISTIC DISORDER; CHILD; CHILD, PRESCHOOL; DATABASES, GENETIC; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; INTELLIGENCE; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MUTATION; NERVE TISSUE PROTEINS; PROTEIN INTERACTION MAPS; YOUNG ADULT;

EID: 84903632999     PISSN: 13594184     EISSN: 14765578     Source Type: Journal    
DOI: 10.1038/mp.2013.106     Document Type: Article

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