Functional analysis of MITF gene mutations associated with Waardenburg syndrome type 2

FEBS Letters

Volumn 586, Issue 23, 2012, Pages 4126-4131

  Zhang, Hua ^a,b   Luo, Hunjin ^d   Chen, Hongsheng ^a,c   Mei, Lingyun ^a,c   He, Chufeng ^a,c   Jiang, Lu ^a,c   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)

Author keywords

Haploinsufficiency; MITF; Mutation; Waardenburg syndrome

Indexed keywords

MICROPHTHALMIA ASSOCIATED TRANSCRIPTION FACTOR; TYROSINE;

ARTICLE; CELLULAR DISTRIBUTION; CONTROLLED STUDY; DNA BINDING; GENE ACTIVITY; GENE INACTIVATION; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; HUMAN; HUMAN CELL; IN VITRO STUDY; MITF GENE; NUCLEAR LOCALIZATION SIGNAL; PRIORITY JOURNAL; PROMOTER REGION; PROTEIN EXPRESSION; WAARDENBURG SYNDROME; WAARDENBURG SYNDROME TYPE 2;

ANIMALS; BLOTTING, WESTERN; CELL LINE, TUMOR; FLUORESCENT ANTIBODY TECHNIQUE; HUMANS; MICE; MICROPHTHALMIA-ASSOCIATED TRANSCRIPTION FACTOR; MUTATION; NIH 3T3 CELLS; WAARDENBURG SYNDROME;

EID: 84869505039     PISSN: 00145793     EISSN: 18733468     Source Type: Journal    
DOI: 10.1016/j.febslet.2012.10.006     Document Type: Article

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