Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load.
Wong
L-J C
LJ
Institute for Molecular and Human Genetics, Georgetown University Medical Center, Washington, DC 20007, USA. wonglj@georgetown.edu
Perng
C-L
CL
Hsu
C-H
CH
Bai
R-K
RK
Schelley
S
S
Vladutiu
G D
GD
Vogel
H
H
Enns
G M
GM
D000328:Adult; D004272:DNA, Mitochondrial / Q000235:genetics*; D005260:Female; D005784:Gene Amplification / Q000235:genetics*; D017353:Gene Deletion; D020440:Gene Duplication; D006801:Humans; D007625:Kearns-Sayre Syndrome / Q000235:genetics; D008126:Lod Score; D009154:Mutation
D004272:DNA, Mitochondrial