المؤلفون: Zahra Assouline, Vladimir Benes, Patrick Nietschke, Daniel Sidi, Francis Brunelle, Valérie Serre, Agnès Rötig, Arnold Munnich, Louise Galmiche, Nathalie Boddaert, Dominique Chretien, Marlène Rio, Marine Beinat, Anne-Sophie Lebre

المصدر: Human Mutation. 32:1225-1231

مصطلحات موضوعية: Male, Ribosomal Proteins, Mitochondrial Diseases, Mitochondrial translation, Mitochondrial disease, DNA Mutational Analysis, Molecular Sequence Data, Respiratory chain, Biology, Compound heterozygosity, DNA, Mitochondrial, Ribosome assembly, Mitochondrial Proteins, Genetics, medicine, Humans, Missense mutation, Exome, Genetics (clinical), Exome sequencing, Sequence Deletion, Base Sequence, Infant, Newborn, Infant, Cardiomyopathy, Hypertrophic, medicine.disease, Mitochondria, Mutation, Mutation (genetic algorithm), Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5268f9f1dac45ccd0282a46114128213
https://doi.org/10.1002/humu.21562