Mitochondriales TRNR-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. |
None (2001) Modifying with mitochondria.
|
2. |
Johnson KR et al. (2001) A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.
|
3. |
Uusimaa J et al. (2004) Molecular epidemiology of childhood mitochondrial encephalomyopathies in a Finnish population: sequence analysis of entire mtDNA of 17 children reveals heteroplasmic mutations in tRNAArg, tRNAGlu, and tRNALeu(UUR) genes.
|
4. |
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
|
5. |
NCBI article
NCBI 4573
|
6. |
OMIM.ORG article
Omim 590005
|
Update: 14. August 2020