Mutations of the TWIST gene in the Saethre-Chotzen syndrome

Nature Genetics

Volumn 15, Issue 1, 1997, Pages 42-46

  Ghouzzi, Vincent El ^a,b   Merrer, Martine Le ^a   Perrin Schmitt, Fabienne ^a   Lajeunie, Elisabeth ^a   Bénit, Paule ^a   Renier, Dominique ^a   Bourgeois, Patrice ^a   Bolcato Bellemin, Anne Laure ^a   Munnich, Arnold ^a   Bonaventure, Jacky ^a  

^a INSERM   (France)

^b INSERAI U 184   (France)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; HELIX LOOP HELIX PROTEIN; TRANSCRIPTION FACTOR;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; AUTOSOMAL DOMINANT DISORDER; BRACHYDACTYLY; CHROMOSOME 7P; CRANIOFACIAL SYNOSTOSIS; FACE ASYMMETRY; FACE DYSMORPHIA; GENE LOCATION; GENE MAPPING; GENE MUTATION; MESENCHYME; MORPHOGENESIS; MOUSE; NEURAL TUBE; NONHUMAN; NONSENSE MUTATION; PRIORITY JOURNAL; PROMINENT EAR; PTOSIS; REVIEW; SYNDACTYLY;

ACROCEPHALOSYNDACTYLIA; AMINO ACID SEQUENCE; ANIMALS; BASE SEQUENCE; CHROMOSOMES, HUMAN, PAIR 7; DNA; FEMALE; HELIX-LOOP-HELIX MOTIFS; HUMANS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTAGENESIS, INSERTIONAL; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; TRANSCRIPTION FACTORS; TWIST TRANSCRIPTION FACTOR;

EID: 0031012353     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng0197-42     Document Type: Review

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