Novel and recurrent mutations of WISP3 in two Chinese families with progressive pseudorheumatoid Dysplasia

PLoS ONE

Volumn 7, Issue 6, 2012, Pages

  Sun, Jing ^a   Xia, Weibo ^a   He, Shuli ^a   Zhao, Zhen ^a   Nie, Min ^a   Li, Mei ^a   Jiang, Yan ^a   Xing, Xiaoping ^a   Wang, Ou ^a   Meng, Xunwu ^a   Zhou, Xueying ^a  

^a PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

Author keywords

[No Author keywords available]

Indexed keywords

DNA; WNT1 PROTEIN;

ANAMNESIS; ARTICLE; BASE PAIRING; CASE REPORT; CHINESE; DNA SEQUENCE; DYSPLASIA; EXON; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE INSERTION; GENE MUTATION; HETEROZYGOSITY; HUMAN; LABORATORY TEST; MISSENSE MUTATION; PHYSICAL EXAMINATION; PROGRESSIVE PSEUDORHEUMATOID DYSPLASIA; SEQUENCE ANALYSIS; WISP3 GENE;

ARTHROPATHY, NEUROGENIC; BASE SEQUENCE; CCN INTERCELLULAR SIGNALING PROTEINS; CHILD, PRESCHOOL; CHINA; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HETEROZYGOTE; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MUTATION, MISSENSE; PEDIGREE; SEQUENCE DELETION; YOUNG ADULT;

EID: 84862021148     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0038643     Document Type: Article

References (14)

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