Mutations in the human SIX3 gene in holoprosencephaly are loss of function

Human Molecular Genetics

Volumn 17, Issue 24, 2008, Pages 3919-3928

  Domené, Sabina ^a   Roessler, Erich ^a   El jaick, Kenia B ^a   Snir, Mirit ^a   Brown, Jamie L ^a   Vélez, Jorge I ^a   Bale, Sherri ^b   Lacbawan, Felicitas ^a   Muenke, Maximilian ^a   Feldman, Benjamin ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

^b GENEDX   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BINDING PROTEIN; EH1 LIKE MOTIF PROTEIN; GENE PRODUCT; GROUCHO COFACTOR; HOMEODOMAIN PROTEIN; TRANSCRIPTION FACTOR SIX3; UNCLASSIFIED DRUG;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; CONTROLLED STUDY; EMBRYO; FAMILY COUNSELING; GENE FREQUENCY; GENE FUNCTION; GENE IDENTIFICATION; GENE LOCATION; GENE LOSS; GENE REPRESSION; GENETIC COUNSELING; HETEROZYGOTE; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NONHUMAN; PATHOGENESIS; POINT MUTATION; PRIORITY JOURNAL; PROTEIN DETERMINATION; PROTEIN INTERACTION; PROTEIN MOTIF; ZEBRA FISH;

ALLELES; AMINO ACID MOTIFS; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; DNA MUTATIONAL ANALYSIS; EYE PROTEINS; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; MOLECULAR SEQUENCE DATA; NERVE TISSUE PROTEINS; POINT MUTATION; ZEBRAFISH;

DANIO RERIO; VERTEBRATA;

EID: 57049100243     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn294     Document Type: Article

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