Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities

被引：214

作者：

Igarashi, T

Inatomi, J

Sekine, T

Cha, SH

Kanai, Y

Kunimi, M

Tsukamoto, K

Satoh, H

Shimadzu, M

Tozawa, F

Mori, T

Shiobara, M

Seki, G

Endou, H

机构：

[1] Univ Tokyo, Fac Med, Dept Pediat, Tokyo 113, Japan

[2] Kyorin Univ, Sch Med, Dept Pharmacol & Toxicol, Tokyo, Japan

[3] Univ Tokyo, Fac Med, Dept Internal Med, Tokyo 113, Japan

[4] Mitsubishi Kagaku Biochem Labo Inc, Dept Genet, Tokyo, Japan

[5] Shinshu Univ, Sch Med, Dept Pediat, Nagano, Japan

来源：

NATURE GENETICS | 1999年 / 23卷 / 03期

关键词：

D O I：

10.1038/15440

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：264 / 266

页数：3

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