Article
[Mutational analysis of MYO1E in children with sporadic steroid-resistant nephrotic syndrome in Chinese Han ethnic group].
Zhonghua er ke za zhi = Chinese journal of pediatrics - 1 Jul 2014
Zhao Feng, Yu Zihua, Yang Yonghui, Nie Xiaojing, Huang Jun, Wang Chengfeng, Xia Guizhi, Chen Guangming
Abstract excerpt
OBJECTIVE: Previous studies have demonstrated that two homozygous missense MYO1E mutations are associated with childhood autosomal recessive focal segmental glomerulosclerosis in steroid-resistant nephrotic syndrome (SRNS) families from Italy and Turkey. Non-disease-causing heterozygous MYO1E variants were also found in other SRNS patient cohorts. However, the role of MYO1E mutations in Chinese sporadic SRNS has...
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