A G220V substitution within the N-terminal transcription regulating domain of HOXD13 causes a variant synpolydactyly phenotype

Human Molecular Genetics

Volumn 18, Issue 5, 2009, Pages 847-860

  Fantini, Sebastian ^a   Vaccari, Giulia ^a   Brison, Nathalie ^b   Debeer, Philippe ^b   Tylzanowski, Przemko ^b   Zappavigna, Vincenzo ^a  

^a UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

^b UNIVERSITY OF LEUVEN   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; GLYCINE; HOX PROTEIN; PROTEIN HAND2; PROTEIN HOXD13; UNCLASSIFIED DRUG; VALINE;

AMINO ACID SUBSTITUTION; AMINO TERMINAL SEQUENCE; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL TISSUE; ARTICLE; CHICK; CONTROLLED STUDY; DNA BINDING; FAMILY STUDY; GENE CLUSTER; GENE FUNCTION; GENE TARGETING; GENETIC VARIABILITY; HUMAN; LIMB DEVELOPMENT; MISSENSE MUTATION; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; POLYDACTYLY; PRIORITY JOURNAL; PROTEIN DOMAIN; SEQUENCE ANALYSIS; SYNPOLYDACTYLY; TRANSCRIPTION REGULATION;

AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANIMALS; CELL LINE, TUMOR; CERCOPITHECUS AETHIOPS; CHICKENS; COS CELLS; HOMEODOMAIN PROTEINS; HUMANS; LIMB DEFORMITIES, CONGENITAL; MICE; MOLECULAR SEQUENCE DATA; MUTATION; MUTATION, MISSENSE; PEDIGREE; PHENOTYPE; PROTEIN BINDING; PROTEIN STRUCTURE, TERTIARY; SEQUENCE ALIGNMENT; TRANSCRIPTION FACTORS; TRANSCRIPTION, GENETIC;

VERTEBRATA;

EID: 60549110502     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddn410     Document Type: Article

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