Utilizing prospective sequence analysis of SHH, ZIC2, SIX3 and TGIF in holoprosencephaly probands to describe the parameters limiting the observed frequency of mutant gene×gene interactions

Molecular Genetics and Metabolism

Volumn 105, Issue 4, 2012, Pages 658-664

  Roessler, Erich ^a   Vélez, Jorge I ^a   Zhou, Nan ^a   Muenke, Maximilian ^a  

^a NATIONAL HUMAN GENOME RESEARCH INSTITUTE   (United States)

Author keywords

Digenic inheritance; Holoprosencephaly; Mutation spectrum; SHH; SIX3 and TGIF; ZIC2

Indexed keywords

TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR SHH; TRANSCRIPTION FACTOR SIX3; TRANSCRIPTION FACTOR TGIF; TRANSCRIPTION FACTOR ZIC2; UNCLASSIFIED DRUG;

ARTICLE; GENE FREQUENCY; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC SCREENING; GENOTYPE ENVIRONMENT INTERACTION; HOLOPROSENCEPHALY; HUMAN; MAJOR CLINICAL STUDY; NUCLEOTIDE SEQUENCE; PREDICTION; PRIORITY JOURNAL;

EYE PROTEINS; HEDGEHOG PROTEINS; HOLOPROSENCEPHALY; HOMEODOMAIN PROTEINS; HUMANS; MODELS, STATISTICAL; MUTATION; MUTATION RATE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; PROSPECTIVE STUDIES; REAL-TIME POLYMERASE CHAIN REACTION; REPRESSOR PROTEINS; SEQUENCE ANALYSIS; TRANSCRIPTION FACTORS;

EID: 84858701475     PISSN: 10967192     EISSN: 10967206     Source Type: Journal    
DOI: 10.1016/j.ymgme.2012.01.005     Document Type: Article

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