Loss-of-function mutations in the EGF-CFC gene CFC1 are associated with human left-right laterality defects

Nature Genetics

Volumn 26, Issue 3, 2000, Pages 365-369

  Bamford, Richard N ^a   Roessler, Erich ^a   Burdine, Rebecca D ^b   Şaplakoǧlu, Umay ^c   Dela Cruz, June ^a   Splitt, Miranda ^d   Towbin, Jeffrey ^e   Bowers, Peter ^f   Marino, Bruno ^g   Schier, Alexander F ^b   Shen, Michael M ^c   Muenke, Maximilian ^a   Casey, Brett ^e  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b NEW YORK UNIVERSITY SCHOOL OF MEDICINE   (United States)

^c RUTGERS UNIVERSITY   (United States)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

^e BAYLOR COLLEGE OF MEDICINE   (United States)

^f YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^g BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

Author keywords

[No Author keywords available]

Indexed keywords

EPIDERMAL GROWTH FACTOR;

ARTICLE; EMBRYO DEVELOPMENT; FETUS MALFORMATION; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; HUMAN; MORPHOGENESIS; NUCLEOTIDE SEQUENCE; PATHOGENESIS; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CODON; DEXTROCARDIA; DNA MUTATIONAL ANALYSIS; DNA, COMPLEMENTARY; EMBRYO, NONMAMMALIAN; EMBRYONIC AND FETAL DEVELOPMENT; EXPRESSED SEQUENCE TAGS; FETAL PROTEINS; FRAMESHIFT MUTATION; GENOTYPE; GROWTH SUBSTANCES; HEAD; HOLOPROSENCEPHALY; HUMANS; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MICE; MOLECULAR SEQUENCE DATA; MORPHOGENESIS; OPEN READING FRAMES; PHENOTYPE; POINT MUTATION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; RECOMBINANT FUSION PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE DELETION; SEQUENCE HOMOLOGY, AMINO ACID; SITUS INVERSUS; SPECIES SPECIFICITY; TRANSFECTION; VISCERA; ZEBRAFISH;

DANIO RERIO; VERTEBRATA;

EID: 0033768239     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/81695     Document Type: Article

References (22)

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7. Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
8. The EGF-CFC gene family in vertebrate development
9. A differential display strategy identifies Cryptic, a novel EGF-related gene expressed in the axial and lateral mesoderm during mouse gastrulation
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