Mitochondriales TRNP-Gen
Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Diagnostik:
| Research | Untersuchungsmethoden | Familienuntersuchung |
| Bearbeitungszeit | 5 | |
| Probentyp | genomic DNA |
| Clinic | Untersuchungsmethoden | Hochdurchsatz-Sequenzierung |
| Bearbeitungszeit | 25 | |
| Probentyp | genomic DNA |
Krankheiten:
Referenzen:
| 1. |
Grasbon-Frodl EM et al. (1999) Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease. [^] |
| 2. |
Blakely EL et al. (2009) A new mitochondrial transfer RNAPro gene mutation associated with myoclonic epilepsy with ragged-red fibers and other neurological features. [^] |
| 3. |
Moraes CT et al. (1993) A mitochondrial tRNA anticodon swap associated with a muscle disease. [^] |
Update: 26. September 2018
