Mitochondriales TRNR-Gen
Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.
Diagnostik:
Krankheiten:
Referenzen:
| 1. |
Avraham KB et al. (2001) Modifying with mitochondria.
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| 2. |
Johnson KR et al. (2001) A nuclear-mitochondrial DNA interaction affecting hearing impairment in mice.
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| 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.
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| 4. |
Smits P et al. (2010) Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.
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