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Mutation
| Result Number | Material Type | Add to My Shelf Action | Record Details and Options |
|---|---|---|---|
| 1 |
Material Type: Artigo
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Inheritance of mitochondrial DNA in humans: implications for rare and common diseasesWei, W. ; Chinnery, P. F.Journal of internal medicine, 2020-06, Vol.287 (6), p.634-644 [Periódico revisado por pares]England: Blackwell Publishing LtdTexto completo disponível |
| 2 |
Material Type: Artigo
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Molecular and clinical spectra of FBXL4 deficiencyEl‐Hattab, Ayman W. ; Dai, Hongzheng ; Almannai, Mohammed ; Wang, Julia ; Faqeih, Eissa A. ; Al Asmari, Ali ; Saleh, Mohammed A. M. ; Elamin, Mohammed A. O. ; Alfadhel, Majid ; Alkuraya, Fowzan S. ; Hashem, Mais ; Aldosary, Mazhor S. ; Almass, Rawan ; Almutairi, Faten B. ; Alsagob, Maysoon ; Al‐Owain, Mohammed ; Al‐Sharfa, Shirin ; Al‐Hassnan, Zuhair N. ; Rahbeeni, Zuhair ; Al‐Muhaizea, Mohammed A. ; Makhseed, Nawal ; Foskett, Gretchen K. ; Stevenson, David A. ; Gomez‐Ospina, Natalia ; Lee, Chung ; Boles, Richard G. ; Schrier Vergano, Samantha A. ; Wortmann, Saskia B. ; Sperl, Wolfgang ; Opladen, Thomas ; Hoffmann, Georg F. ; Hempel, Maja ; Prokisch, Holger ; Alhaddad, Bader ; Mayr, Johannes A. ; Chan, Wenyaw ; Kaya, Namik ; Wong, Lee‐Jun C.Human mutation, 2017-12, Vol.38 (12), p.1649-1659 [Periódico revisado por pares]United States: Hindawi LimitedTexto completo disponível |
| 3 |
Material Type: Artigo
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CRISPR-free base editors with enhanced activity and expanded targeting scope in mitochondrial and nuclear DNAMok, Beverly Y ; Kotrys, Anna V ; Raguram, Aditya ; Huang, Tony P ; Mootha, Vamsi K ; Liu, David RNature biotechnology, 2022-09, Vol.40 (9), p.1378-1387 [Periódico revisado por pares]United States: Nature Publishing GroupTexto completo disponível |
| 4 |
Material Type: Artigo
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Diverse hematological phenotypes of [beta]-thalassemia carriersLuo, Hong-Yuan ; Chui, David HKAnnals of the New York Academy of Sciences, 2016-03, Vol.1368 (1), p.49 [Periódico revisado por pares]New York: Wiley Subscription Services, IncTexto completo disponível |
| 5 |
Material Type: Artigo
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Nuclear genes involved in mitochondrial diseases caused by instability of mitochondrial DNARusecka, Joanna ; Kaliszewska, Magdalena ; Bartnik, Ewa ; Tońska, KatarzynaJournal of applied genetics, 2018-02, Vol.59 (1), p.43-57 [Periódico revisado por pares]Berlin/Heidelberg: Springer Berlin HeidelbergTexto completo disponível |
| 6 |
Material Type: Artigo
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Decoding the mitochondria without a code: mechanistic insights into mitochondrial DNA depletion syndromesSen, Ritoprova ; Jetto, Cuckoo Teresa ; Manjithaya, RaviJournal of biosciences, 2024-02, Vol.49 (1), p.32, Article 32 [Periódico revisado por pares]New Delhi: Springer IndiaTexto completo disponível |
| 7 |
Material Type: Artigo
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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletionsRONCHI, Dario ; GARONE, Caterina ; CORTI, Stefania ; BRESOLIN, Nereo ; MOOTHA, Vamsi K ; MOGGIO, Maurizio ; DIMAURO, Salvatore ; COMI, Giacomo P ; SCIACCO, Monica ; BORDONI, Andreina ; GUTIERREZ RIOS, Purificacion ; CALVO, Sarah E ; RIPOLONE, Michela ; RANIERI, Michela ; RIZZUTI, Mafalda ; VILLA, Luisa ; MAGRI, FrancescaBrain (London, England : 1878), 2012-11, Vol.135 (Pt 11), p.3404-3415 [Periódico revisado por pares]Oxford: Oxford University PressTexto completo disponível |
| 8 |
Material Type: Artigo
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Reduced mitochondrial D-loop methylation levels in sporadic amyotrophic lateral sclerosisStoccoro, Andrea ; Smith, Adam R ; Mosca, Lorena ; Marocchi, Alessandro ; Gerardi, Francesca ; Lunetta, Christian ; Cereda, Cristina ; Gagliardi, Stella ; Lunnon, Katie ; Migliore, Lucia ; Coppedè, FabioClinical epigenetics, 2020-09, Vol.12 (1), p.137-137, Article 137 [Periódico revisado por pares]Germany: BioMed Central LtdTexto completo disponível |
| 9 |
Material Type: Artigo
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The Chemistry of Reactive Oxygen Species (ROS) Revisited: Outlining Their Role in Biological Macromolecules (DNA, Lipids and Proteins) and Induced PathologiesJuan, Celia Andrés ; Pérez de la Lastra, José Manuel ; Plou, Francisco J ; Pérez-Lebeña, EduardoInternational journal of molecular sciences, 2021-04, Vol.22 (9), p.4642 [Periódico revisado por pares]Switzerland: MDPI AGTexto completo disponível |
| 10 |
Material Type: Artigo
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Enhanced mitochondrial DNA editing in mice using nuclear-exported TALE-linked deaminases and nucleasesLee, Seonghyun ; Lee, Hyunji ; Baek, Gayoung ; Namgung, Eunji ; Park, Joo Min ; Kim, Sanghun ; Hong, Seongho ; Kim, Jin-SooGenome Biology, 2022-10, Vol.23 (1), p.1-211, Article 211 [Periódico revisado por pares]London: BioMed Central LtdTexto completo disponível |
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