about
Large copy number variations in combination with point mutations in the TYMP and SCO2 genes found in two patients with mitochondrial disorders.Thymidine kinase 2 and alanyl-tRNA synthetase 2 deficiencies cause lethal mitochondrial cardiomyopathy: case reports and review of the literature.Novel mutations in the TAZ gene in patients with Barth syndrome.High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.Large heterozygous deletions on 22q13.33 in combination with TYMP or SCO2 point mutations in two patients with mitochondrial disorders
P50
description
hulumtuese
@sq
onderzoeker
@nl
researcher
@en
հետազոտող
@hy
name
Alžběta Vondráčková
@ast
Alžběta Vondráčková
@en
Alžběta Vondráčková
@es
type
label
Alžběta Vondráčková
@ast
Alžběta Vondráčková
@en
Alžběta Vondráčková
@es
prefLabel
Alžběta Vondráčková
@ast
Alžběta Vondráčková
@en
Alžběta Vondráčková
@es
P1053
I-9534-2017
P106
P1153
6506611686
P21
P31
P3829
P496
0000-0003-0954-703X