Mutated NDUFS6 is the cause of fatal neonatal lactic acidemia in Caucasus Jews

NADH:ubiquinone oxidoreductase (complex I; EC 1.6.5.3), the largest respiratory chain complex is composed of 45 proteins and is located at the mitochondrial inner membrane. Defects in complex I are associated with energy generation disorders, of which the most severe is congenital lactic acidosis. W...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Spiegel, Ronen, Shaag, Avraham, Mandel, Hanna, Reich, Dan, Penyakov, Marina, Hujeirat, Yasir, Saada, Ann, Elpeleg, Orly, Shalev, Stavit A
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2009
Témata:
Short Report
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2986593/
https://ncbi.nlm.nih.gov/pubmed/19259137
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2009.24
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky