A new piece in the nephrotic puzzle

被引：4

作者：

Quaggin, Susan E. ^{[1
]}

机构：

[1] Univ Toronto, Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada

来源：

NATURE GENETICS | 2006年 / 38卷 / 12期

关键词：

D O I：

10.1038/ng1206-1360

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A new study reports mutations in PLCE1 responsible for an autosomal recessive nephrotic syndrome in children that presents with diffuse mesangial sclerosis or focal segmental glomerulosclerosis. Remarkably, two affected individuals treated at an early phase of life responded to either steroids or cyclosporin A, opening a window of opportunity for therapy.

引用

页码：1360 / 1361

页数：3

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