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A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency.
Oláhová M, Haack TB, Alston CL, Houghton JA, He L, Morris AA, Brown GK, McFarland R, Chrzanowska-Lightowlers ZM, Lightowlers RN, Prokisch H, Taylor RW. Oláhová M, et al. Among authors: lightowlers rn. Eur J Hum Genet. 2015 Jul;23(7):935-9. doi: 10.1038/ejhg.2014.214. Epub 2014 Oct 8. Eur J Hum Genet. 2015. PMID: 25293719 Free PMC article.
The mRNA-binding protein COLBP is glutamate dehydrogenase.
Preiss T, Sang AE, Chrzanowska-Lightowlers ZM, Lightowlers RN. Preiss T, et al. Among authors: lightowlers rn. FEBS Lett. 1995 Jul 3;367(3):291-6. doi: 10.1016/0014-5793(95)00569-u. FEBS Lett. 1995. PMID: 7607326 Free article.
195 results