Genetic and Functional Analyses of ZIC3 Variants in Congenital Heart Disease

Human Mutation

Volumn 35, Issue 1, 2014, Pages 66-75

  Cowan, Jason ^a   Tariq, Muhammad ^a   Ware, Stephanie M ^a  

^a UNIVERSITY OF CINCINNATI COLLEGE OF MEDICINE   (United States)

Author keywords

Congenital heart disease; Heterotaxy; Left right patterning; Symmetry; ZIC3

Indexed keywords

COMPLEMENTARY DNA; GENOMIC DNA;

AMINO TERMINAL SEQUENCE; ARTICLE; CARBOXY TERMINAL SEQUENCE; CELL MIGRATION; CELL STRAIN 3T3; CELLULAR DISTRIBUTION; CHILD; CONGENITAL HEART DISEASE; CONTROLLED STUDY; CYTOPLASM; EXON; FAMILIAL DISEASE; FAMILY HISTORY; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC COUNSELING; GENETIC SCREENING; GENETIC VARIABILITY; HETEROTAXY SYNDROME; HUMAN; HUMAN CELL; IMMUNOCYTOCHEMISTRY; INDEL MUTATION; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; NONSENSE MUTATION; OPEN READING FRAME; PATHOGENICITY; POINT MUTATION; PRIORITY JOURNAL; REPORTER GENE; SCHOOL CHILD; SEQUENCE ANALYSIS; TRANSACTIVATION; ZINC FINGER IN CEREBELLUM 3 GENE; ZINC FINGER MOTIF;

ANIMALS; CODON, NONSENSE; COHORT STUDIES; FEMALE; FRAMESHIFT MUTATION; GENETIC VARIATION; HEART DEFECTS, CONGENITAL; HETEROTAXY SYNDROME; HOMEODOMAIN PROTEINS; HUMANS; MALE; MICE; MUTATION, MISSENSE; NIH 3T3 CELLS; PEPTIDES; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN TRANSPORT; RING FINGER DOMAINS; SEQUENCE ANALYSIS, DNA; TRANSCRIPTION FACTORS;

EID: 84890798801     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22457     Document Type: Article

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