Partial tandem duplication of GRIA3 in a male with mental retardation

American Journal of Medical Genetics, Part A

Volumn 143, Issue 13, 2007, Pages 1448-1455

  Chiyonobu, Tomohiro ^a,b   Hayashi, Shin ^c   Kobayashi, Kazuhiro ^a   Morimoto, Masafumi ^b   Miyanomae, Yuri ^d   Nishimura, Akira ^b   Nishimoto, Akemi ^a   Ito, Chiyomi ^a   Imoto, Issei ^c   Sugimoto, Tohru ^b   Jia, Zhengping ^e,f   Inazawa, Johji ^c   Toda, Tatsushi ^a  

^a OSAKA UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^b KYOTO PREFECTURAL UNIVERSITY OF MEDICINE   (Japan)

^c TOKYO MEDICAL AND DENTAL UNIVERSITY   (Japan)

^d Kyoto City Child Welfare Center   (Japan)

^e HOSPITAL FOR SICK CHILDREN   (Canada)

^f UNIVERSITY OF TORONTO   (Canada)

Author keywords

Array CGH; Duplication; Genomic rearrangement; GRIA3; X chromosome inactivation; X linked mental retardation

Indexed keywords

GENOMIC DNA;

ARTICLE; CASE REPORT; CHROMOSOME BANDING PATTERN; CHROMOSOME REARRANGEMENT; CHROMOSOME XQ; COMPARATIVE GENOMIC HYBRIDIZATION; GENE; GENE DOSAGE; GENE DUPLICATION; GRIA3 GENE; HUMAN; LYMPHOBLASTOID CELL; MALE; MICROARRAY ANALYSIS; MUTATIONAL ANALYSIS; PRIORITY JOURNAL; REAL TIME POLYMERASE CHAIN REACTION; RNA ISOLATION; SCHOOL CHILD; SOUTHERN BLOTTING; X CHROMOSOME; X CHROMOSOME INACTIVATION; X LINKED MENTAL RETARDATION;

BASE SEQUENCE; FEMALE; GENE DUPLICATION; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MOLECULAR SEQUENCE DATA; MUTATION; RECEPTORS, AMPA; TRANSCRIPTION, GENETIC; X CHROMOSOME INACTIVATION;

EID: 34447303305     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31798     Document Type: Article

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