WHOLE EXOME SEQUENCING IDENTIFIES A NOVEL MUTATION IN ATP6V0A4 IN FAMILIAL DISTAL RENAL TUBULAR ACIDOSIS

被引：0
|
作者：
Mccarthy, H. J. [1 ]
Sawyer, A. [1 ]
Fletcher, J. [2 ]
Mallett, A. [3 ]
Mallawaarachchi, A. [4 ]
Ho, G. [5 ]
Bennetts, B. [5 ]
Jueppner, H. W. [6 ]
Alexander, S. I. [1 ]
机构：
[1] Univ Sydney, Ctr Kidney Res, Sydney, NSW 2006, Australia
[2] Canberra Hosp, Dept Paediat, Canberra, ACT, Australia
[3] Royal Brisbane & Womens Hosp, Dept Renal Med, Herston, Qld, Australia
[4] Westmead Hosp, Dept Clin Genet, Sydney, NSW, Australia
[5] Childrens Hosp, Dept Mol Genet, Westmead, NSW, Australia
[6] Massachusetts Gen Hosp, Dept Endocrinol, Boston, MA 02114 USA
来源：
NEPHROLOGY | 2014年 / 19卷
关键词：
D O I：
暂无
中图分类号：
R5 [内科学]; R69 [泌尿科学（泌尿生殖系疾病）];
学科分类号：
1002 ; 100201 ;
摘要：
188
引用
收藏
页码：67 / 68
页数：2
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