Mutation in CUL4B, which encodes a member of cullin-RING ubiquitin ligase complex, causes X-linked mental retardation

American Journal of Human Genetics

Volumn 80, Issue 3, 2007, Pages 561-566

  Zou, Yongxin ^a   Liu, Qiji ^a   Chen, Bingxi ^a   Zhang, Xiyu ^a   Guo, Chenhong ^a   Zhou, Haibin ^a   Li, Jiangxia ^a   Gao, Guimin ^a   Guo, Yishou ^a   Yan, Chuanzhu ^b   Wei, Jianjun ^a,d   Shao, Changshun ^a,c   Gong, Yaoqin ^a  

^a SHANDONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^b SHANDONG UNIVERSITY   (China)

^c RUTGERS UNIVERSITY   (United States)

^d NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARGININE; CULLIN; GENE PRODUCT; MESSENGER RNA; PROTEIN RING; UBIQUITIN PROTEIN LIGASE; UNCLASSIFIED DRUG;

ADULT; ALLELE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CHROMOSOME XQ; CLINICAL ARTICLE; COGNITION; CUL4B GENE; ENZYME ACTIVE SITE; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC SCREENING; HUMAN; LEUKOCYTE; MUTANT; NONSENSE MUTATION; NUCLEIC ACID BASE SUBSTITUTION; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RNA DEGRADATION; SCHOOL CHILD; STOP CODON; UBIQUITINATION; X CHROMOSOME INACTIVATION; X LINKED MENTAL RETARDATION;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, X; CULLIN PROTEINS; DOSAGE COMPENSATION, GENETIC; FEMALE; GENETIC LINKAGE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; MUTATION; PEDIGREE;

EID: 33847216248     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/512489     Document Type: Article

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