Stop codon at arginine 586 is the prevalent nephronopthisis type 1 mutation in Italy

被引:7
作者
Caridi, Gianluca
Dagnino, Monica
Trivelli, Antonella
Emma, Francesco
Perfumo, Francesco
Ghiggeri, Gian Marco
机构
[1] Ist Giannina Gaslini, Lab Pathophysiol Uremia, I-16148 Genoa, Italy
[2] Ist Giannina Gaslini, Renal Sect, I-16148 Genoa, Italy
[3] Bambino Gesu Pediat Hosp, Nephrol Sect, Rome, Italy
关键词
nephronophthisis; mutation analysis;
D O I
10.1093/ndt/gfl277
中图分类号
R3 [基础医学]; R4 [临床医学];
学科分类号
1001 ; 1002 ; 100602 ;
摘要
[No abstract available]
引用
收藏
页码:2301 / 2303
页数:3
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