Mitochondriales TRNN-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. |
Vives-Bauza C et al. (2003) Genotype-phenotype correlation in the 5703G>A mutation in the tRNA(ASN) gene of mitochondrial DNA.
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| 2. |
Meulemans A et al. (2006) A novel mitochondrial transfer RNA(Asn) mutation causing multiorgan failure.
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| 3. |
Seibel P et al. (1994) Chronic progressive external ophthalmoplegia is associated with a novel mutation in the mitochondrial tRNA(Asn) gene.
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| 4. |
None (1993) Heavy traffic at a dual-purpose human mitochondrial tRNA gene.
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| 5. |
Moraes CT et al. (1993) Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
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| 6. |
Hao H et al. (1997) A disease-associated G5703A mutation in human mitochondrial DNA causes a conformational change and a marked decrease in steady-state levels of mitochondrial tRNA(Asn).
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| 7. |
NCBI article
NCBI 4570 [^]
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| 8. |
OMIM.ORG article
Omim 590010 [^]
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| 9. |
Orphanet article
Orphanet ID 364766 [^]
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Update: 29. April 2019
