Analysis of the effects of rare variants on splicing identifies alterations in GABA A receptor genes in autism spectrum disorder individuals

European Journal of Human Genetics

Volumn 21, Issue 7, 2013, Pages 749-756

  Piton, Amélie ^a,b,e   Jouan, Loubna ^a,b   Rochefort, Daniel ^a   Dobrzeniecka, Sylvia ^a   Lachapelle, Karine ^a   Dion, Patrick A ^a,c   Gauthier, Julie ^a,b   Rouleau, Guy A ^a,b,d  

^a UNIVERSITY OF MONTREAL   (Canada)

^b CENTRE HOSPITALIER DE L UNIVERSITÉ DE MONTRÉAL   (Canada)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d UNIVERSITY OF MONTREAL   (Canada)

^e UNIVERSITÉ DE STRASBOURG   (France)

Author keywords

autism; GABRA3; GABRQ; schizophrenia; splicing alteration

Indexed keywords

4 AMINOBUTYRIC ACID A RECEPTOR; BLOOD CLOTTING FACTOR 5; HISTONE DEACETYLASE 6; NUCLEAR RNA;

ARTICLE; AUTISM; CELL CULTURE; CELL STRAIN COS7; COMPUTER MODEL; EXON; GENETIC ANALYSIS; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; LYMPHOBLASTOID CELL; MISSENSE MUTATION; PRIORITY JOURNAL; RNA SPLICING; SCHIZOPHRENIA; SPLICING DEFECT;

ALTERNATIVE SPLICING; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; COMPUTER SIMULATION; GENES, X-LINKED; GENETIC VARIATION; HUMANS; MUTATION; RECEPTORS, GABA-A; RNA SPLICE SITES; SCHIZOPHRENIA;

EID: 84879418540     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.243     Document Type: Article

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