A recurrent de novo ATP5F1A substitution associated with neonatal complex V deficiency
Matthew A. Lines, Alexanne Cuillerier, Pranesh Chakraborty, Turaya Naas, Maria Laura Duque Lasio, Jean Michaud, Chantal A. Pileggi, Mary‐Ellen Harper, Yan Burelle, Tomi L. Toler, Neal Sondheimer, Heather P. Crawford, Francisca Millan, Michael T. Geraghty
Topics & Concepts
Failure to thriveProbandExome sequencingCompound heterozygosityHyperammonemiaBiologyProtein subunitMutationGeneticsMedicineEndocrinologyGeneMitochondrial Function and PathologyMetabolism and Genetic DisordersATP Synthase and ATPases Research