Detection by multiplex ligation-dependent probe amplification of large deletion mutations in the COL4A5 gene in female patients with Alport syndrome

被引:7
|
作者
Nozu, Kandai [1 ]
Krol, Rafal Przybyslaw [1 ]
Nakanishi, Koichi [2 ]
Yoshikawa, Norishige [2 ]
Nozu, Yoshimi [1 ]
Ohtsuka, Yasufumi [3 ]
Iijima, Kazumoto [1 ]
Matsuo, Masafumi [1 ]
机构
[1] Kobe Univ, Grad Sch Med, Dept Pediat, Chuo Ku, Kobe, Hyogo 6500017, Japan
[2] Wakayama Med Univ, Dept Pediat, Wakayama, Japan
[3] Saga Med Sch, Dept Pediat, Saga, Japan
关键词
MOLECULAR ANALYSIS; BARTTER-SYNDROME;
D O I
10.1007/s00467-009-1122-0
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:1773 / 1774
页数:2
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