Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number (vol 99, pg 860, 2016)

被引：2
|
作者：
Thompson, Kyle
Majd, Homa
Dallabona, Cristina
Reinson, Karit
King, Martin S.
Alston, Charlotte L.
He, Langping
Lodi, Tiziana
Jones, Simon A.
Fattal-Valevski, Aviva
Fraenkel, Nitay D.
Saada, Ann
Haham, Alon
Isohanni, Pirjo
Vara, Roshni
Barbosa, Ines A.
Simpson, Michael A.
Deshpande, Charu
Puusepp, Sanna
Bonnen, Penelope E.
Rodenburg, Richard J.
Suomalainen, Anu
Ounap, Katrin
Elpeleg, Orly
Ferrero, Ileana
McFarland, Robert
Kunji, Edmund R. S.
Taylor, Robert W.
机构：
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 2016年 / 99卷 / 06期
基金：
美国国家卫生研究院; 英国医学研究理事会;
关键词：
D O I：
10.1016/j.ajhg.2016.11.001
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：1405 / 1405
页数：1
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