Monoallelic PKHD1 Loss-of-Function Variants Could Be a Cause of Adult Polycystic Kidney Disease

被引：0

作者：

Fujimaru, Takuya ^{[1
,2
,3
]}

Mori, Takayasu ^{[1
]}

Sekine, Akinari ^{[4
]}

Chiga, Motoko

Mandai, Shintaro ^{[1
]}

Kikuchi, Hiroaki ^{[1
]}

Mori, Yutaro ^{[1
]}

Hara, Yu ^{[1
]}

Fujiki, Tamami ^{[1
]}

Ando, Fumiaki ^{[1
]}

Susa, Koichiro ^{[1
]}

Iimori, Soichiro ^{[1
]}

Naito, Shotaro ^{[1
]}

Suwabe, Tatsuya

Ubara, Yoshifumi ^{[4
]}

Uchida, Shinichi ^{[1
,4
]}

Sohara, Eisei ^{[1
]}

机构：

[1] Tokyo Ika Shika Daigaku Daigakin Ishigaku Sogo K, Bunkyo Ku, Tokyo, Japan

[2] Sei Roka Kokusai Byoin, Chuo Ku, Tokyo, Japan

[3] Toranomon Byoin, Minato Ku, Tokyo, Japan

[4] Tokyo Ika Shika Daigaku Byoin, Bunkyo Ku, Tokyo, Japan

来源：

JOURNAL OF THE AMERICAN SOCIETY OF NEPHROLOGY | 2024年 / 35卷 / 10期

关键词：

D O I：

10.1681/ASN.202491vf17mx

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：

SA-PO599

引用

页数：2

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