Retraction: Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5′ of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability (Human Mutation, (2012), 33, 2, (355-358), 10.1002/humu.21649);Exploring the potential role of disease-causing mutation in a gene desert: Duplication of noncoding elements 5'of GRIA3 is associated with GRIA3 silencing and X-linked intellectual disability

Human Mutation

Volumn 33, Issue 2, 2012, Pages 355-358

  Bonnet, Céline ^a   Masurel Paulet, Alice ^b   Khan, Asma Ali ^a   Béri Dexheimer, Mylène ^a   Callier, Patrick ^c   Mugneret, Francine ^c   Philippe, Christophe ^a   Thauvin Robinet, Christel ^b   Faivre, Laurence ^b   Jonveaux, Philippe ^a  

^a UNIVERSITÉ DE LORRAINE   (France)

^b Medical University of Dijon   (France)

^c HÔPITAL DU BOCAGE   (France)

Author keywords

Duplication; GRIA3; Intellectual disability; Position effect

Indexed keywords

GLUTAMATE RECEPTOR IONOTROPIC AMPA SUBUNIT 3; IONOTROPIC RECEPTOR; MESSENGER RNA; TRANSCRIPTION FACTOR; UNCLASSIFIED DRUG; UNTRANSLATED RNA;

5' UNTRANSLATED REGION; ARTICLE; BACTERIAL ARTIFICIAL CHROMOSOME; BINDING SITE; BLOOD SAMPLING; BRAIN ATROPHY; CASE REPORT; CENTROMERE; CHILD; CHROMOSOME DUPLICATION; CHROMOSOME HIGH RESOLUTION BANDING ANALYSIS; COGNITION; COMPARATIVE GENOMIC HYBRIDIZATION; EPILEPSY; EPILEPTIC STATE; FLUORESCENCE IN SITU HYBRIDIZATION; GENE DUPLICATION; GENE EXPRESSION; GENE MAPPING; GENE SEQUENCE; GENE SILENCING; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC CONSERVATION; HISTOPATHOLOGY; HUMAN; INHERITANCE; INTELLECTUAL IMPAIRMENT; LOSS OF FUNCTION MUTATION; LYMPHOCYTE; MALE; MISSENSE MUTATION; MOTHER; MUSCLE HYPOTONIA; NEUROIMAGING; NEUROLOGIC EXAMINATION; NONSENSE MUTATION; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PSYCHOMOTOR DISORDER; PSYCHOMOTOR RETARDATION; PTOSIS; TONIC CLONIC SEIZURE; WILD TYPE; X CHROMOSOME INACTIVATION; X CHROMOSOME LINKED DISORDER;

EID: 84857784929     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.23991     Document Type: Erratum

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