Exome sequencing identifies UPF3B as the causative gene for a Chinese non-syndrome mental retardation pedigree

Clinical Genetics

Volumn 83, Issue 6, 2013, Pages 560-564

  Xu, X ^a   Zhang, L ^a   Tong, P ^a,b   Xun, G ^c   Su, W ^a   Xiong, Z ^a   Zhu, T ^a   Zheng, Y ^a   Luo, S ^a   Pan, Y ^a   Xia, K ^a,d   Hu, Z ^a,d  

^a State Key Laboratory of Medical Genetics   (China)

^b CENTRAL SOUTH UNIVERSITY   (China)

^c Shandong Mental Health Center   (China)

^d CENTRAL SOUTH UNIVERSITY   (China)

Author keywords

Exome sequencing; Mental retardation; UPF3B

Indexed keywords

FRAGILE X MENTAL RETARDATION PROTEIN; GROWTH ARREST AND DNA DAMAGE INDUCIBLE PROTEIN 45; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; UPF3B PROTEIN;

ADULT; ARTICLE; CHINESE; CLINICAL ARTICLE; CONTROLLED STUDY; DNA DAMAGE; EXOME; FEMALE; GENE DELETION; GENE IDENTIFICATION; GENE INSERTION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; MALE; MENTAL DEFICIENCY; MUTATIONAL ANALYSIS; NONSENSE MEDIATED MRNA DECAY; NUCLEOTIDE SEQUENCE; PEDIGREE ANALYSIS; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; REAL TIME POLYMERASE CHAIN REACTION; SEQUENCE ANALYSIS; SINGLE NUCLEOTIDE POLYMORPHISM; X CHROMOSOME INACTIVATION;

BASE SEQUENCE; CHINA; CHROMOSOMES, HUMAN, X; CODON, NONSENSE; EXOME; FAMILY HEALTH; FEMALE; GENE EXPRESSION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; MALE; MENTAL RETARDATION, X-LINKED; PEDIGREE; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA-BINDING PROTEINS; SEQUENCE ANALYSIS, DNA;

EID: 84876814034     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/cge.12014     Document Type: Article

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