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
收藏
页码：483 / 484
页数：2
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