Partial deletion of GLRB and GRIA2 in a patient with intellectual disability

European Journal of Human Genetics

Volumn 21, Issue 1, 2013, Pages 112-114

  Hackmann, Karl ^a   Matko, Sarah ^a   Gerlach, Eva Maria ^a   Von Der Hagen, Maja ^b   Klink, Barbara ^a   Schrock, Evelin ^a   Rump, Andreas ^a   Di Donato, Nataliya ^a  

^a DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

^b DRESDEN UNIVERSITY OF TECHNOLOGY   (Germany)

Author keywords

fusion gene; GLRB; glutamate receptor; GRIA2; intellectual disability

Indexed keywords

GLUTAMATE RECEPTOR; PROTEIN; PROTEIN GLRB; PROTEIN GRIA2; UNCLASSIFIED DRUG;

ARTICLE; BLOOD; BRAIN TISSUE; CASE REPORT; CHILD; FUSION GENE; GENE DELETION; GENE MUTATION; HAPLOINSUFFICIENCY; HUMAN; INTELLECTUAL IMPAIRMENT; MALE; OPEN READING FRAME; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SYNAPSE;

AMINO ACID SEQUENCE; CHILD, PRESCHOOL; EXONS; GENE FUSION; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; INTELLECTUAL DISABILITY; MALE; MOLECULAR SEQUENCE DATA; RECEPTORS, AMPA; RECEPTORS, GLYCINE; SEQUENCE DELETION;

EID: 84871209460     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2012.97     Document Type: Article

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