المؤلفون: Angela Pyle, Michael G. Hanna, S.E. Omer, Joanna Stewart, Gavin Hudson, D du Plessis, H Powell, Emma L. Blakely, David W. Gow, Douglass M. Turnbull, Mark E Roberts, L D Mewasingh, Robert W. Taylor, S. Tennant, Robert McFarland, Richard Roxburgh, John H. Livingston, A. A. M. Morris, Patrick F. Chinnery, Langping He

المصدر: Journal of medical genetics. 46(3)

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Ophthalmoplegia, Chronic Progressive External, Mitochondrial Diseases, Adolescent, Mitochondrial disease, Mutation, Missense, Cytochrome-c Oxidase Deficiency, DNA-Directed DNA Polymerase, Biology, medicine.disease_cause, Genetics, medicine, Cytochrome c oxidase, Missense mutation, Humans, Child, Muscle, Skeletal, Gene, Genetics (clinical), Polymerase, Mutation, Infant, Diffuse Cerebral Sclerosis of Schilder, Middle Aged, medicine.disease, DNA Polymerase gamma, Liver, biology.protein, Female, Sequence Alignment, Mitochondrial DNA replication

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb62cde58f22591bc46bc39450a50967Test
https://pubmed.ncbi.nlm.nih.gov/19251978Test

المؤلفون: Andrew M. Schaefer, David C. Samuels, Marcus Deschauer, Patrick F. Chinnery, Robert W. Taylor, Angela Pyle, Steve E. Durham

المصدر: Journal of medical genetics. 44(1)

مصطلحات موضوعية: Adult, Male, Mitochondrial DNA, Aging, Mitochondrial disease, Gene Dosage, Mitochondrion, Biology, medicine.disease_cause, DNA, Mitochondrial, Polymerase Chain Reaction, Fluorescence, law.invention, law, Mitochondrial Encephalomyopathies, Genetics, medicine, Leukocytes, Humans, Point Mutation, Genetics (clinical), Polymerase chain reaction, Aged, Mutation, Point mutation, Middle Aged, medicine.disease, Molecular biology, Heteroplasmy, Mitochondria, Muscle, Female, Letter to JMG

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f6c2b9a189062f04846b05953aaf1e1Test
https://pubmed.ncbi.nlm.nih.gov/16950816Test