Functional analysis of Waardenburg syndrome-associated PAX3 and SOX10 mutations: Report of a dominant-negative SOX10 mutation in Waardenburg syndrome type II

Human Genetics

Volumn 131, Issue 3, 2012, Pages 491-503

  Zhang, Hua ^a,b   Chen, Hongsheng ^a,c   Luo, Hunjin ^d   An, Jing ^d   Sun, Lin ^d   Mei, Lingyun ^a,c   He, Chufeng ^a,c   Jiang, Lu ^a,c   Jiang, Wen ^e   Xia, Kun ^d   Li, Jia Da ^d   Feng, Yong ^a,c,d  

^a CENTRAL SOUTH UNIVERSITY   (China)

^b XINJIANG MEDICAL UNIVERSITY   (China)

^c Province Key Laboratory of Otolaryngology Critical Diseases   (China)

^d CENTRAL SOUTH UNIVERSITY   (China)

^e Second Affiliated Hospital of Hunan Normal University (163 Hospital of PLA)   (China)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; MUTANT PROTEIN; TRANSCRIPTION FACTOR PAX3; TRANSCRIPTION FACTOR SOX10; PAIRED BOX TRANSCRIPTION FACTOR; PAX3 PROTEIN, HUMAN; SOX10 PROTEIN, HUMAN; TRANSCRIPTION FACTOR SOX;

ADOLESCENT; ARTICLE; CASE REPORT; CELL NUCLEUS; CHILD; CONTROLLED STUDY; CYTOPLASM; FEMALE; FRAMESHIFT MUTATION; GENE LOCUS; HUMAN; IN VITRO STUDY; MALE; MUTATIONAL ANALYSIS; NONSENSE MUTATION; NUCLEOTIDE SEQUENCE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; SCHOOL CHILD; TRANSCRIPTION REGULATION; WAARDENBURG SYNDROME; WILD TYPE; GENE EXPRESSION; GENETIC TRANSFECTION; GENETICS; MUTATION; PEDIGREE; TISSUE DISTRIBUTION;

ADOLESCENT; FEMALE; GENE EXPRESSION; HUMANS; MUTATION; PAIRED BOX TRANSCRIPTION FACTORS; PEDIGREE; SOXE TRANSCRIPTION FACTORS; TISSUE DISTRIBUTION; TRANSFECTION; WAARDENBURG'S SYNDROME;

EID: 84859549286     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/s00439-011-1098-2     Document Type: Article

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