Mitochondriales TRNV-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. |
McFarland R et al. (2002) Multiple neonatal deaths due to a homoplasmic mitochondrial DNA mutation.
|
2. |
Sacconi S et al. (2002) Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
|
3. |
Tiranti V et al. (1998) A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.
|
4. |
Orphanet article
Orphanet ID 267449
|
5. |
NCBI article
NCBI 4577
|
6. |
OMIM.ORG article
Omim 590105
|
Update: 14. August 2020