Biallelic missense and deep intronic NDUFAF6 variants, unraveled by exome sequencing and mRNA analysis, in patients with Leigh syndrome

被引：0
|
作者：
Catania, A. [1 ]
Ardissone, A. [1 ]
Verrigni, D. [2 ]
Legati, A. [1 ]
Reyes, A. [3 ]
Lamantea, E. [1 ]
Diodato, D. [2 ]
Moroni, I. [1 ]
Bertini, E. [2 ]
Robinson, A. [3 ]
Carrozzo, R. [2 ]
Zeviani, M. [3 ]
Ghezzi, D. [1 ,4 ]
机构：
[1] Fdn IRCCS Neurol Inst Besta, Milan, Italy
[2] Bambino Gesu Pediat Hosp, IRCCS, Rome, Italy
[3] Univ Cambridge, Med Res Council Mitochondrial Biol Unit, Cambridge, England
[4] Univ Milan, Milan, Italy
来源：
EUROPEAN JOURNAL OF HUMAN GENETICS | 2019年 / 27卷
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：
P06.49A
引用
收藏
页码：188 / 189
页数：2
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