Loss-of-function mutations of TMEM260 cause autosomal recessive polycystic kidney, cerebral atrophy and cardiac malformation

被引：0

作者：

Keszthelyi, T. M. ^{[1
,2
]}

Varga, M. ^{[3
]}

Czimer, D. ^{[3
]}

Ralbovszki, D. ^{[3
]}

Ablonczy, L. ^{[4
]}

Bole, C. ^{[5
]}

Antignac, C. ^{[5
]}

Tory, K. ^{[1
,2
]}

机构：

[1] Semmelweis Univ, Dept Pediat 1, Budapest, Hungary

[2] MTA SE Lendulet Nephrogenet Lab, Budapest, Hungary

[3] Eotvos Lorand Univ, Dept Genet, Budapest, Hungary

[4] Gottsegen Gyorgy Natl Inst Cardiol, Budapest, Hungary

[5] INSERM, Imagine Inst, UMR 1163, Paris, France

来源：

EUROPEAN JOURNAL OF HUMAN GENETICS | 2020年 / 28卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

P11.93.C

引用

页码：483 / 484

页数：2

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