Molecular characterization of HOXA13 polyalanine expansion proteins in hand-foot-genital syndrome

American Journal of Medical Genetics, Part A

Volumn 143, Issue 24, 2007, Pages 3161-3168

  Utsch, Boris ^a   McCabe, Colleen D ^b   Galbraith, Kenneth ^b   Gonzalez, Ricardo ^c   Born, Mark ^d   Dötsch, Jörg ^a   Ludwig, Michael ^d   Reutter, Heiko ^d   Innis, Jeffrey W ^b,e  

^a UNIVERSITY OF ERLANGEN NUREMBERG   (Germany)

^b UNIVERSITY OF MICHIGAN   (United States)

^c NEMOURS ALFRED I DUPONT HOSPITAL FOR CHILDREN   (United States)

^d UNIVERSITY OF BONN   (Germany)

^e University of Bonn ^*  (United States)

Author keywords

Hand foot genital syndrome; HOXA13; Polyalanine expansion

Indexed keywords

GELDANAMYCIN; MUTANT PROTEIN; POLYALANINE; TRANSCRIPTION FACTOR; TRANSCRIPTION FACTOR HOXA13; TRANSCRIPTION FACTOR HOXD13; UNCLASSIFIED DRUG;

ANIMAL CELL; AUTOSOMAL DOMINANT DISORDER; CASE REPORT; CELL AGGREGATION; CELLULAR DISTRIBUTION; CONFERENCE PAPER; CONTROLLED STUDY; CYTOPLASM; DNA SEQUENCE; DRUG MECHANISM; FEMALE; GENE MUTATION; GENETIC TRANSFECTION; HAND FOOT GENITAL SYNDROME; HUMAN; IMMUNOCYTOCHEMISTRY; MALE; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN FUNCTION; PROTEIN LOCALIZATION; SKELETON MALFORMATION; STEADY STATE; UROGENITAL TRACT MALFORMATION; WILD TYPE;

ANIMALS; BENZOQUINONES; CELL NUCLEUS; CERCOPITHECUS AETHIOPS; COS CELLS; CYTOPLASM; FEMALE; FOOT DEFORMITIES, CONGENITAL; HAND DEFORMITIES, CONGENITAL; HOMEODOMAIN PROTEINS; HUMANS; LACTAMS, MACROCYCLIC; MALE; PEPTIDES; PROTEIN FOLDING; SYNDROME; TRANSFECTION; TRINUCLEOTIDE REPEAT EXPANSION; UROGENITAL ABNORMALITIES;

EID: 37249089742     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31967     Document Type: Conference Paper

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