Mitochondriales TRNP-Gen
Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
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.
|
4. |
Orphanet article
Orphanet ID 205934
|
5. |
NCBI article
NCBI 4571
|
6. |
OMIM.ORG article
Omim 590075
|
Update: 14. August 2020