High proportion of 22q13 deletions and SHANK3 mutations in Chinese patients with intellectual disability

PLoS ONE

Volumn 7, Issue 4, 2012, Pages

  Gong, Xiaohong ^a   Jiang, Yu Wu ^b   Zhang, Xin ^a   An, Yu ^c,d   Zhang, Jun ^a,e   Wu, Ye ^b   Wang, Jingmin ^b   Sun, Yangfei ^a   Liu, Yanyan ^a   Gao, Xuewu ^a   Shen, Yiping ^c,d   Wu, Xiru ^b   Qiu, Zilong ^f   Jin, Li ^a   Wu, Bai Lin ^c,d   Wang, Hongyan ^a,c  

^a FUDAN UNIVERSITY   (China)

^b PEKING UNIVERSITY FIRST HOSPITAL   (China)

^c FUDAN UNIVERSITY   (China)

^d CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

^e FUDAN UNIVERSITY   (China)

^f Shanghai Jiao Tong University Affiliated Sixth People s Hospital   (China)

Author keywords

[No Author keywords available]

Indexed keywords

SCAFFOLD PROTEIN; CARRIER PROTEIN; SHANK3 PROTEIN, HUMAN;

ADOLESCENT; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BRAIN CELL; CHILD; CHINESE; CHROMOSOME ABERRATION; CHROMOSOME DELETION; CHROMOSOME DELETION 22Q13; CONTROLLED STUDY; DISEASE SEVERITY; ENVIRONMENTAL FACTOR; FEMALE; GENE; GENE MUTATION; GENE OVEREXPRESSION; GENETIC DISORDER; GENETIC TRANSFECTION; GENOME ANALYSIS; HUMAN; INTELLECTUAL IMPAIRMENT; MAJOR CLINICAL STUDY; MALE; MICROARRAY ANALYSIS; MOUSE; MOUSE EMBRYO; NERVE FIBER GROWTH; NONHUMAN; NONSENSE MUTATION; PLASMID; PRESCHOOL CHILD; SHANK3 GENE; SINGLE NUCLEOTIDE POLYMORPHISM; ANIMAL; CHINA; CHROMOSOME 22; CHROMOSOME DISORDER; GENE EXPRESSION REGULATION; GENETICS; NEURITE; PHYSIOLOGY; STOP CODON;

MUS;

ANIMALS; CARRIER PROTEINS; CHINA; CHROMOSOME DELETION; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 22; CODON, NONSENSE; GENE EXPRESSION REGULATION; HUMANS; INTELLECTUAL DISABILITY; MICE; NEURITES; POLYMORPHISM, SINGLE NUCLEOTIDE;

EID: 84859624524     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0034739     Document Type: Article

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