CNVs leading to fusion transcripts in individuals with autism spectrum disorder

European Journal of Human Genetics

Volumn 20, Issue 11, 2012, Pages 1141-1147

  Holt, Richard ^a   Sykes, Nuala H ^a   Conceição, Inês C ^b,c,d   Cazier, Jean Baptiste ^a   Anney, Richard J L ^e   Oliveira, Guiomar ^f,g,h   Gallagher, Louise ^e   Vicente, Astrid ^b,c,d   Monaco, Anthony P ^a   Pagnamenta, Alistair T ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

^b NATIONAL INSTITUTE OF HEALTH DR RICARDO JORGE   (Portugal)

^c INSTITUTO GULBENKIAN DE CIÊNCIA   (Portugal)

^d UNIVERSITY OF LISBON   (Portugal)

^e Autism Genetics Group   (Ireland)

^f Hospital Pediá Trico Coimbra   (Portugal)

^g CENTRO HOSPITALAR E UNIVERSITÁRIO DE COIMBRA   (Portugal)

^h UNIVERSITY OF COIMBRA   (Portugal)

Author keywords

ACAD10; ALDH2; CNV; dyslexia; KIAA0319; MAPKAPK5

Indexed keywords

MESSENGER RNA;

3' UNTRANSLATED REGION; 5' UNTRANSLATED REGION; ARTICLE; AUTISM; CASE CONTROL STUDY; CELL LINE; CONTROLLED STUDY; COPY NUMBER VARIATION; DISEASE PREDISPOSITION; FREQUENCY ANALYSIS; FUSION GENE; GAIN OF FUNCTION MUTATION; GENETIC TRANSCRIPTION; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; OPEN READING FRAME; PHENOTYPE; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; VALIDATION STUDY;

3' UNTRANSLATED REGIONS; 5' UNTRANSLATED REGIONS; ACYL-COA DEHYDROGENASE; CASE-CONTROL STUDIES; CELL LINE; CHILD; CHILD DEVELOPMENT DISORDERS, PERVASIVE; DNA COPY NUMBER VARIATIONS; DNA-DIRECTED RNA POLYMERASES; GENE DUPLICATION; GENE FUSION; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MEMBRANE TRANSPORT PROTEINS; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PROTEIN-SERINE-THREONINE KINASES; RNA, MESSENGER; TRANSCRIPTION FACTORS;

EID: 84867742978     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.73     Document Type: Article

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