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MeSH:(Paired Box Transcription Factors/genetics)

1.Nonsense mutations in the PAX3 gene cause Waardenburg syndrome type I in two Chinese patients.

Shu-Zhi YANG ; Ju-Yang CAO ; Rui-Ning ZHANG ; Li-Xian LIU ; Xin LIU ; Xin ZHANG ; Dong-Yang KANG ; Mei LI ; Dong-Yi HAN ; Hui-Jun YUAN ; Wei-Yan YANG

Chinese Medical Journal 2007;120(1):46-49

2.Analysis of PAX6 gene mutations in a Chinese family affected with congenital aniridia.

Jing CHEN ; Jianfang ZHU

Chinese Journal of Medical Genetics 2016;33(4):523-525

3.Analysis of PAX6 gene mutation in a family affected with congenital aniridia.

Yang KANG ; Xue LI ; Qiong WU ; Wenyan ZHOU ; Qingjun LI ; Qi HU

Chinese Journal of Medical Genetics 2016;33(4):519-522

4.Mutation analysis of PAX6 gene in a large Chinese family with aniridia.

Shu-juan SONG ; Ying-zhi LIU ; Ri-chang CONG ; Ying JIN ; Zhi-qiang HOU ; Zhi-zhong MA ; Guo-cheng REN ; Ling-song LI

Chinese Medical Journal 2005;118(4):302-306

5.Mutation analysis of seven patients with Waardenburg syndrome.

Ziqi HAO ; Yongan ZHOU ; Pengli LI ; Quanbin ZHANG ; Jiao LI ; Pengfei WANG ; Xiangshao LI ; Yong FENG

Chinese Journal of Medical Genetics 2016;33(3):312-315

7.A novel mutation of the PAX6 gene in a Chinese family with aniridia.

Yang KANG ; Hui-ping YUAN ; Xue LI ; Qing-jun LI ; Qiong WU ; Qi HU

Chinese Journal of Medical Genetics 2010;27(4):376-380

8.Mutation analysis of the PAX6 gene in a family with congenital aniridia and cataract.

Ying LIN ; Jing LI ; Yang YANG ; Ji-yun YANG ; Ben ZHANG ; Xin TANG ; Xiao-qi LIU ; Fang LU ; Zheng-lin YANG

Chinese Journal of Medical Genetics 2009;26(5):542-545

9.Identification of a novel PAX6 mutation in a family with congenital aniridia.

Juan LI ; Li ZHAO ; Xiao-jing CAI ; Li LU ; Gang LI

Chinese Journal of Medical Genetics 2013;30(5):579-581

10.R240X mutation of the PAX6 gene in a Chinese family with congenital aniridia.

Li-ming WANG ; Tianjin Eye HOSPITAL ; Ming YING ; Xia WANG ; Yu-chuan WANG ; Peng HAO ; Ning-dong LI

Chinese Journal of Medical Genetics 2009;26(5):546-549

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