Identification of novel rare mutations of DACT1 in human neural tube defects

Human Mutation

Volumn 33, Issue 10, 2012, Pages 1450-1455

  Shi, Yan ^a,f   Ding, Yi ^b   Lei, Yun Ping ^a   Yang, Xue Yan ^a   Xie, Guo Ming ^b   Wen, Jun ^b   Cai, Chun Quan ^c   Li, Hong ^d   Chen, Ying ^d   Zhang, Ting ^e   Wu, Bai Lin ^f,g   Jin, Li ^a,f   Chen, Ye Guang ^b   Wang, Hong Yan ^a,f,h  

^a FUDAN UNIVERSITY   (China)

^b TSINGHUA UNIVERSITY   (China)

^c Tianjin Children's Hospital   (China)

^d The Center for Reproduction and Genetics   (China)

^e CAPITAL INSTITUTE OF PEDIATRICS   (China)

^f FUDAN UNIVERSITY   (China)

^g BOSTON CHILDREN S HOSPITAL   (United States)

^h CHILDREN S HOSPITAL OF FUDAN UNIVERSITY   (China)

Author keywords

DACT1; NTD; PCP; Rare mutations

Indexed keywords

STRESS ACTIVATED PROTEIN KINASE;

ARTICLE; CELL POLARITY; CHEMICAL ANALYSIS; CONTROLLED STUDY; DACT1 GENE; EMBRYO; GENE IDENTIFICATION; GENE MUTATION; HETEROZYGOTE; HUMAN; HUMAN CELL; HUMAN TISSUE; LOSS OF FUNCTION MUTATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NEURAL TUBE DEFECT; NONHUMAN; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; RISK FACTOR;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; ASIAN CONTINENTAL ANCESTRY GROUP; CELL POLARITY; EMBRYO, MAMMALIAN; HUMANS; MICE; MICE, KNOCKOUT; MUTATION; NEURAL TUBE DEFECTS; NUCLEAR PROTEINS;

MUS;

EID: 84866272415     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22121     Document Type: Article

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