TY  - GEN
AU  - Kara,Bülent
AU  - Arıkan,Muzaffer
AU  - Maraş,Hülya
AU  - Abacı,Neslihan
AU  - Cakıris,Aris
AU  - Ustek,Duran
TI  - Whole mitochondrial genome analysis of a family with NARP/MILS caused by m.8993T>C mutation in the MT-ATP6 gene
SN  - 1096-7206
PY  - 2013///0327
KW  - Child
KW  - DNA, Mitochondrial
KW  - analysis
KW  - Female
KW  - Gene Expression
KW  - Genetic Heterogeneity
KW  - Genome, Mitochondrial
KW  - High-Throughput Nucleotide Sequencing
KW  - Humans
KW  - Infant
KW  - Leigh Disease
KW  - genetics
KW  - Male
KW  - Mitochondria
KW  - Mitochondrial Myopathies
KW  - Mitochondrial Proton-Translocating ATPases
KW  - Mutation
KW  - Pedigree
KW  - Retinitis Pigmentosa
KW  - Severity of Illness Index
KW  - Young Adult
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1016/j.ymgme.2012.06.013
ER  -