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1دورية أكاديمية
المؤلفون: Yue Hou, Xutong Zhao, Zhiying Xie, Meng Yu, He Lv, Wei Zhang, Yun Yuan, Zhaoxia Wang
المصدر: Molecular Genetics & Genomic Medicine, Vol 10, Iss 5, Pp n/a-n/a (2022)
مصطلحات موضوعية: progressive external ophthalmoplegia, mtDNA maintenance defect, multiple mtDNA deletion, POLG, POLG2, RRM2B, Genetics, QH426-470
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2324-9269
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2دورية أكاديمية
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المؤلفون: Feichtinger R. G., Olahova M., Kishita Y., Garone C., Kremer L. S., Yagi M., Uchiumi T., Jourdain A. A., Thompson K., D'Souza A. R., Kopajtich R., Alston C. L., Koch J., Sperl W., Mastantuono E., Strom T. M., Wortmann S. B., Meitinger T., Pierre G., Chinnery P. F., Chrzanowska-Lightowlers Z. M., Lightowlers R. N., DiMauro S., Calvo S. E., Mootha V. K., Moggio M., Sciacco M., Comi G. P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J. A., Taylor R. W., Okazaki Y., Minczuk M., Prokisch H.
المساهمون: Garone, Caterina [0000-0003-4928-1037], Chinnery, Patrick [0000-0002-7065-6617], Minczuk, Michal [0000-0001-8242-1420], Apollo - University of Cambridge Repository, Feichtinger R.G., Olahova M., Kishita Y., Garone C., Kremer L.S., Yagi M., Uchiumi T., Jourdain A.A., Thompson K., D'Souza A.R., Kopajtich R., Alston C.L., Koch J., Sperl W., Mastantuono E., Strom T.M., Wortmann S.B., Meitinger T., Pierre G., Chinnery P.F., Chrzanowska-Lightowlers Z.M., Lightowlers R.N., DiMauro S., Calvo S.E., Mootha V.K., Moggio M., Sciacco M., Comi G.P., Ronchi D., Murayama K., Ohtake A., Rebelo-Guiomar P., Kohda M., Kang D., Mayr J.A., Taylor R.W., Okazaki Y., Minczuk M., Prokisch H.
المصدر: American Journal of Human Genetics
American journal of human genetics, vol. 101, no. 4, pp. 525-538مصطلحات موضوعية: Male, Mitochondrial Diseases, Protein Conformation, Sequence Homology, Severity of Illness Index, Cohort Studies, Mice, Mitochondrial Disease, Age of Onset, Cells, Cultured, Allele, multiple mtDNA deletions, Middle Aged, Pedigree, mitochondria, Child, Preschool, Adult, Aged, Alleles, Amino Acid Sequence, Animals, Cardiomyopathies/complications, Cardiomyopathies/genetics, Cardiomyopathies/pathology, Carrier Proteins/chemistry, Carrier Proteins/genetics, Carrier Proteins/metabolism, DNA, Mitochondrial, Electron Transport/physiology, Embryo, Mammalian/metabolism, Embryo, Mammalian/pathology, Female, Fibroblasts/metabolism, Fibroblasts/pathology, Humans, Infant, Newborn, Mitochondrial Diseases/complications, Mitochondrial Diseases/genetics, Mitochondrial Diseases/pathology, Mitochondrial Proteins/chemistry, Mitochondrial Proteins/genetics, Mitochondrial Proteins/metabolism, Mutation, Oxidative Phosphorylation, Young Adult, MAM33, PEO, lactate, myopathy, oxidative phosphorylation, p32, progressive external ophthalmoplegia, multiple mtDNA deletion, Fibroblast, Cardiomyopathies, Human, Article, Electron Transport, Mitochondrial Proteins, Mitochondrial Protein, Cardiomyopathie, Animal, Fibroblasts, Embryo, Mammalian, Cohort Studie, Carrier Protein, Carrier Proteins
وصف الملف: application/pdf; ELETTRONICO
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