Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome.
Sham
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Lui
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Fu
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D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D002681:China; D004252:DNA Mutational Analysis; D004268:DNA-Binding Proteins / Q000737:chemistry / Q000235:genetics*; D004739:England; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant / Q000235:genetics*; D005838:Genotype; D006609:High Mobility Group Proteins / Q000737:chemistry / Q000235:genetics*; D006627:Hirschsprung Disease / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007231:Infant, Newborn; D007438:Introns / Q000235:genetics; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D055757:SOXE Transcription Factors; D013577:Syndrome; D014157:Transcription Factors; D014849:Waardenburg Syndrome / Q000150:complications / Q000235:genetics* / Q000503:physiopathology; D044465:White People / Q000235:genetics
D004268:DNA-Binding Proteins; D006609:High Mobility Group Proteins; C527923:SOX10 protein, human; D055757:SOXE Transcription Factors; D014157:Transcription Factors