Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

SLC25A15-Gen

Das SLC25A15-Gen kodiert eine wichtiges Transportproteins des Harnstoffzyklus. Mutationen führen zur autosomal rezessiven Erkrankung der HHH-Syndroms

Diagnostik:

Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Hyperornithinämie-Hyperammonämie-Homocitrullinurie-Syndrom
SLC25A15

Referenzen:

1.

Camacho JA et al. (1999) Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.

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2.

Tsujino S et al. (2000) Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.

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3.

Miyamoto T et al. (2001) Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.

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4.

Salvi S et al. (2001) Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

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5.

Debray FG et al. (2008) Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.

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6.

Tessa A et al. (2009) Identification of novel mutations in the SLC25A15 gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: a clinical, molecular, and functional study.

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7.

Nakajima M et al. (1988) Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.

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