HETEROPLASMY-ASSOCIATED MITOCHONDRIAL DNA VARIANTS IN HUMAN BLOOD AND SKELETAL MUSCLE SAMPLES
Objective: Mitochondrial heteroplasmy, a recognized trait in eukaryotic cells, plays a pivotal role in complex disorders like mitochondrial diseases. High-throughput sequencing has improved precision in detecting low-level heteroplasmy and can identify ultra-low-level variants (<1%) associate...
Saved in:
| Main Authors: | Çağrı Güleç, Asuman Gedikbaşı, Gökçen Şahin, Güven Toksoy, Altuğ Duramaz, Zehra Oya Uyguner |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Istanbul University Press
2024-01-01
|
| Series: | İstanbul Tıp Fakültesi Dergisi |
| Subjects: | |
| Online Access: | https://cdn.istanbul.edu.tr/file/JTA6CLJ8T5/9A952BCBF95F4BBBBBBD040629755A01 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
Similar Items
-
Tissue-specific mitochondrial DNA, MT-TF, pathogenic variants in mitochondrial myopathies
by: Sylvia Rose, et al.
Published: (2025-06-01) -
The quality and detection limits of mitochondrial heteroplasmy by long read nanopore sequencing
by: Barbara Slapnik, et al.
Published: (2024-11-01) -
mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease
by: John P Grady, et al.
Published: (2018-05-01) -
Homoplasmic m.591C >T variant in the mitochondrial MT-TF exhibits phenotypic heterogeneity: a family report
by: Shanshan Fan, et al.
Published: (2025-05-01) -
Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture
by: Pavel A Nash, et al.
Published: (2025-04-01)