Effects of a Mutation in the HSPE1 Gene Encoding the Mitochondrial Co-chaperonin HSP10 and Its Potential Association with a Neurological and Developmental Disorder
Bie, Anne S, Fernandez-Guerra, Paula, Birkler, Rune I D, Nisemblat, Shahar, Pelnena, Dita, Lu, Xinping, Deignan, Joshua L, Lee, Hane, Dorrani, Naghmeh, Corydon, Thomas J, Palmfeldt, Johan, Bivina, Liga, Azem, Abdussalam, Herman, Kristin, Bross, Peter
Published in Frontiers in molecular biosciences (07.10.2016)
Published in Frontiers in molecular biosciences (07.10.2016)
Get full text
Journal Article
Heterozygosity for an in-frame deletion causes glutaryl-CoA dehydrogenase deficiency in a patient detected by newborn screening: investigation of the effect of the mutant allele
Bross, Peter, Frederiksen, Jane B., Bie, Anne S., Hansen, Jakob, Palmfeldt, Johan, Nielsen, Marit N., Duno, Morten, Lund, Allan M., Christensen, Ernst
Published in Journal of inherited metabolic disease (01.09.2012)
Published in Journal of inherited metabolic disease (01.09.2012)
Get full text
Journal Article