Identification and characterization of novel rare mutations in the planar cell polarity gene PRICKLE1 in human neural tube defects

Human Mutation

Volumn 32, Issue 12, 2011, Pages 1371-1375

  Bosoi, Ciprian M ^a   Capra, Valeria ^b   Allache, Redouane ^a   Trinh, Vincent Quoc Huy ^a   De Marco, Patrizia ^b   Merello, Elisa ^b   Drapeau, Pierre ^c   Bassuk, Alexander G ^d   Kibar, Zoha ^a  

^a UNIVERSITY OF MONTREAL   (Canada)

^b G GASLINI INSTITUTE   (Italy)

^c UNIVERSITÉ DE MONTRÉAL   (Canada)

^d UNIVERSITY OF IOWA   (United States)

Author keywords

Neural tube defects; NTD; PCP; Planar cell polarity; PRICKLE1; Rare mutations

Indexed keywords

ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BIOINFORMATICS; CELL POLARITY; CONGENITAL MALFORMATION; CONTROLLED STUDY; GENE; GENE FUNCTION; GENE IDENTIFICATION; GENE MUTATION; HUMAN; NEURAL TUBE DEFECT; NONHUMAN; PHENOTYPE; PRICKLE1 GENE; PRIORITY JOURNAL; WILD TYPE; ZEBRA FISH;

ANIMALS; CELL POLARITY; DISEASE MODELS, ANIMAL; FEMALE; HUMANS; ITALY; LIM DOMAIN PROTEINS; MALE; MUTATION, MISSENSE; NEURAL TUBE DEFECTS; TUMOR SUPPRESSOR PROTEINS; UNITED STATES; ZEBRAFISH;

ANIMALIA; DANIO RERIO;

EID: 81255171519     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.21589     Document Type: Article

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