Litcius/Paper detail

Phenotypic, molecular, and functional characterization of COQ7-related primary CoQ10 deficiency: Hypomorphic variants and two distinct disease entities

Parith Wongkittichote, Maria Laura Duque Lasio, Martina Magistrati, Sheel Pathak, Brooke Sample, Daniel R. Carvalho, Adriana Banzzatto Ortega, Matheus Augusto Araújo Castro, Claudio M. de Gusmão, Tomi L. Toler, Emanuele Bellacchio, Cristina Dallabona, Marwan Shinawi

2023Molecular Genetics and Metabolism13 citationsDOIOpen Access PDF

Topics & Concepts

BiologyAllelePhenotypeCompound heterozygosityGeneticsDiseaseMitochondrial diseaseGeneInternal medicineMedicineMitochondrial DNACoenzyme Q10 studies and effectsAdvanced battery technologies researchBiochemical Acid Research Studies