SLC25A15-Gen
Das SLC25A15-Gen kodiert eine wichtiges Transportproteins des Harnstoffzyklus. Mutationen führen zur autosomal rezessiven Erkrankung der HHH-Syndroms
Gentests:
Forschung |
Untersuchungsmethoden |
Familienuntersuchung |
Bearbeitungszeit |
5 Tage |
Probentyp |
genomische DNS |
Verknüpfte Erkrankungen:
Referenzen:
1. |
Camacho JA et al. (1999) Hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter.
|
2. |
Miyamoto T et al. (2001) Diagnosis of Japanese patients with HHH syndrome by molecular genetic analysis: a common mutation, R179X.
|
3. |
Salvi S et al. (2001) Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
|
4. |
Debray FG et al. (2008) Phenotypic variability among patients with hyperornithinaemia-hyperammonaemia-homocitrullinuria syndrome homozygous for the delF188 mutation in SLC25A15.
|
5. |
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.
|
6. |
Nakajima M et al. (1988) Clinical, biochemical and ultrastructural study on the pathogenesis of hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
|
7. |
Tsujino S et al. (2000) Three novel mutations (G27E, insAAC, R179X) in the ORNT1 gene of Japanese patients with hyperornithinemia, hyperammonemia, and homocitrullinuria syndrome.
|
8. |
Orphanet article
Orphanet ID 118789
|
9. |
NCBI article
NCBI 10166
|
10. |
OMIM.ORG article
Omim 603861
|
11. |
Wikipedia Artikel
Wikipedia DE (Mitochondrieller_Ornithin-Transporter)
|
Update: 14. August 2020