A novel de novo truncating TRIM8 mutation associated with intellectual disability and renal failure.

被引：0
|
作者：
McClatchey, M. A. [1 ]
du Toit, Z. D. [2 ]
Vaughan, R. [1 ]
Whatley, S. D. [3 ]
Martins, S. [3 ]
Hegde, S. [4 ]
Naude, J. te Water [5 ]
Thomas, D. H. [6 ]
Griffiths, D. F. [6 ]
Clarke, A. J. [1 ,3 ]
Fry, A. E. [1 ,3 ]
机构：
[1] Cardiff Univ, Div Canc & Genet, Cardiff, Wales
[2] Glangwili Gen Hosp, Dept Gen Med, Carmarthen, Dyfed, Wales
[3] All Wales Med Genom Serv, Cardiff, Wales
[4] Univ Hosp Wales, Ctr Childrens Kidney, Cardiff, Wales
[5] Univ Hosp Wales, Paediat Neurol Serv, Cardiff, Wales
[6] Univ Hosp Wales, Dept Cellular Pathol, Cardiff, Wales
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：
E-P08.41
引用
收藏
页码：874 / 875
页数：2
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