المؤلفون: Gai, Xiaowu, Ghezzi, Daniele, Johnson, Mark A, Biagosch, Caroline A, Shamseldin, Hanan E, Haack, Tobias B, Reyes, Aurelio, Tsukikawa, Mai, Sheldon, Claire A, Srinivasan, Satish, Gorza, Matteo, Kremer, Laura S, Wieland, Thomas, Strom, Tim M, Polyak, Erzsebet, Place, Emily, Consugar, Mark, Ostrovsky, Julian, Vidoni, Sara, Robinson, Alan J, Wong, Lee-Jun, Sondheimer, Neal, Salih, Mustafa A, Al-Jishi, Emtethal, Raab, Christopher P., MD, MS, Bean, Charles, Furlan, Francesca, Parini, Rossella, Lamperti, Costanza, Mayr, Johannes A, Konstantopoulou, Vassiliki, Huemer, Martina, Pierce, Eric A, Meitinger, Thomas, Freisinger, Peter, Sperl, Wolfgang, Prokisch, Holger, Alkuraya, Fowzan S, Falk, Marni J, Zeviani, Massimo

المصدر: Department of Pediatrics

مصطلحات موضوعية: Age of Onset, Child, Preschool, Chromosomes, Human, Pair 6, DNA, Complementary, F-Box Proteins, Female, Fibroblasts, Genes, Recessive, Genetic Predisposition to Disease, HEK293 Cells, Humans, Infant, Newborn, Male, Mitochondria, Mitochondrial Encephalomyopathies, Mitochondrial Proteins, Muscle, Skeletal, Mutant Proteins, Mutation, Oxidative Phosphorylation, Pedigree, Protein Transport, Subcellular Fractions

العلاقة: https://scholarlyworks.lvhn.org/pediatrics/957Test; https://pubmed.ncbi.nlm.nih.gov/23993194Test/

الإتاحة: https://scholarlyworks.lvhn.org/pediatrics/957Test
https://pubmed.ncbi.nlm.nih.gov/23993194Test/

المؤلفون: Comander, Jason, Weigel-DiFranco, Carol, Maher, Matthew, Place, Emily, Wan, Aliete, Harper, Shyana, Sandberg, Michael A., Navarro-Gomez, Daniel, Pierce, Eric A.

المصدر: Genes; Oct2017, Vol. 8 Issue 10, p256, 14p

مصطلحات موضوعية: RETINITIS pigmentosa, RHODOPSIN genetics, RETINA, DNA, GENOTYPES, GENETICS

المؤلفون: Xie, Hongbo M, Perin, Juan C, Schurr, Theodore G, Dulik, Matthew C, Zhadanov, Sergey I, Baur, Joseph A, King, Michael P, Place, Emily, Clarke, Colleen, Grauer, Michael, Schug, Jonathan, Santani, Avni, Albano, Anthony, Kim, Cecilia, Procaccio, Vincent, Hakonarson, Hakon, Gai, Xiaowu, Falk, Marni J

المصدر: Department of Biochemistry and Molecular Biology Faculty Papers

مصطلحات موضوعية: Computational Biology, Genome, Human, Mitochondrial, Humans, Mitochondria, Mutation, Sequence Analysis, DNA, Medical Biochemistry

وصف الملف: application/pdf

العلاقة: https://jdc.jefferson.edu/bmpfp/55Test; https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1054&context=bmpfpTest

الإتاحة: https://jdc.jefferson.edu/bmpfp/55Test
https://jdc.jefferson.edu/cgi/viewcontent.cgi?article=1054&context=bmpfpTest