Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Mitochondriales TRNY-Gen

Alle mitochondralen Gene werden im Zuge einer Diagnostik mitochondrialer Erkrankungen gemeinsam untersucht.

Diagnostik:

Research Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Referenzen:

1.

Pulkes T et al. (2000) A novel mutation in the mitochondrial tRNA(TYr) gene associated with exercise intolerance.

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2.

Sahashi K et al. (2001) Functional characterisation of mitochondrial tRNA(Tyr) mutation (5877-->GA) associated with familial chronic progressive external ophthalmoplegia.

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3.

Raffelsberger T et al. (2001) CPEO associated with a single nucleotide deletion in the mitochondrial tRNA(Tyr) gene.

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4.

Scaglia F et al. (2003) Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

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