Next generation sequencing reveals novel compound heterozygous deletions in NDUFAF2 in a child with mitochondrial complex I deficiency, nuclear type 10

被引：0
作者：
Marshall, Aren E. [1 ]
Brady, Lauren [2 ]
Yeh, Ed [3 ]
Mears, Alan J. [3 ]
Lacaria, Melanie [3 ]
Chakraborty, Pranesh [3 ]
Tarnopolsky, Mark A. [2 ]
Kernohan, Kristin D. [1 ,3 ,4 ]
机构：
[1] Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, Ottawa, ON, Canada
[2] McMaster Univ, Hamilton Hlth Sci Ctr, Dept Pediat, Div Neuromuscular & Neurometab Disorders, Hamilton, ON, Canada
[3] Childrens Hosp Eastern Ontario, Newborn Screening Ontario, Ottawa, ON, Canada
[4] Univ Ottawa, Childrens Hosp, Eastern Ontario Res Inst, 401 Smyth Rd, Ottawa, ON K1H 8L1, Canada
来源：
AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2024年 / 194卷 / 07期
基金：
英国惠康基金; 加拿大健康研究院;
关键词：
PHENOTYPE; DISEASE;
D O I：
10.1002/ajmg.a.63590
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页数：4
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