A transcription factor involved in skeletal muscle gene expression is deleted in patients with Williams syndrome

European Journal of Human Genetics

Volumn 7, Issue 7, 1999, Pages 737-747

  Tassabehji, Mayada ^a   Carette, Martin ^a   Wilmot, Carrie ^b   Donnai, Dian ^a   Read, Andrew P ^a   Metcalfe, Kay ^a  

^a ST MARY S HOSPITAL   (United Kingdom)

^b UNIVERSITY OF LEEDS   (United Kingdom)

Author keywords

Fatigue resistant slow fibres; GTF3; HLH like repeated motif; Skeletal muscle; Skeletal muscle gene expression; TFII I GTF2I; Transcription factor; Williams Beuren syndrome (WS)

Indexed keywords

TRANSCRIPTION FACTOR;

AMINO ACID SEQUENCE; AORTA SUPRAVALVULAR STENOSIS; ARTICLE; CHROMOSOME 7Q; DNA LIBRARY; FETUS; GENE DELETION; GENE EXPRESSION; GENE ISOLATION; GENETIC TRANSCRIPTION; HEART; HUMAN; HUMAN TISSUE; NORTHERN BLOTTING; PRIORITY JOURNAL; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY; SKELETAL MUSCLE; WILLIAMS BEUREN SYNDROME;

AMINO ACID SEQUENCE; BASE SEQUENCE; BLOTTING, NORTHERN; DNA, COMPLEMENTARY; DNA-BINDING PROTEINS; GENE DELETION; GENE EXPRESSION; GENE EXPRESSION PROFILING; GENE LIBRARY; HELIX-LOOP-HELIX MOTIFS; HUMANS; IN SITU HYBRIDIZATION, FLUORESCENCE; MOLECULAR SEQUENCE DATA; MUSCLE PROTEINS; MUSCLE, SKELETAL; NUCLEAR PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SEQUENCE HOMOLOGY, AMINO ACID; TRANS-ACTIVATORS; TRANSCRIPTION FACTORS; WILLIAMS SYNDROME;

EID: 0032701165     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5200396     Document Type: Article

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