TY  - GEN
AU  - Niu,Zhijie
AU  - Li,Jiada
AU  - Tang,Fen
AU  - Sun,Jie
AU  - Wang,Xueping
AU  - Jiang,Lu
AU  - Mei,Lingyun
AU  - Chen,Hongsheng
AU  - Liu,Yalan
AU  - Cai,Xinzhang
AU  - Feng,Yong
AU  - He,Chufeng
TI  - Identification and functional analysis of a novel mutation in the PAX3 gene associated with Waardenburg syndrome type I
SN  - 1879-0038
PY  - 2017///1226
KW  - Cell Line
KW  - Cell Nucleus
KW  - genetics
KW  - Female
KW  - Genetic Association Studies
KW  - Genetic Predisposition to Disease
KW  - Humans
KW  - Male
KW  - Microphthalmia-Associated Transcription Factor
KW  - Mutation, Missense
KW  - PAX3 Transcription Factor
KW  - Pedigree
KW  - Promoter Regions, Genetic
KW  - Sequence Analysis, DNA
KW  - Waardenburg Syndrome
N1  - Publication Type: Journal Article
UR  - https://doi.org/10.1016/j.gene.2017.11.035
ER  -