Human Genome Epidemiology Literature Finder
Records 1 - 5 (of 5 Records) |
Query Trace: DGUOK[original query] |
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Novel mutation in C10orf2 associated with multiple mtDNA deletions, chronic progressive external ophthalmoplegia and premature aging. Mitochondrion 2015 Dec 26 81-85. Paramasivam Arumugam, Meena Angamuthu Kannan, Pedaparthi Lalitha, Jyothi Vuskamalla, Uppin Megha S, Jabeen Shaikh Afshan, Sundaram Challa, Thangaraj Kumarasa |
A fatal case of mitochondrial DNA depletion syndrome with novel compound heterozygous variants in the deoxyguanosine kinase gene. Oncotarget 2017 11 8 (48): 84309-84319. Fang Weiyuan, Song Peng, Xie Xinbao, Wang Jianshe, Lu Yi, Li Gang, Abuduxikuer Kuerbanjia |
Mitochondrial DNA maintenance disorders in 102 patients from different parts of Russia: Mutational spectrum and phenotypes. Mitochondrion 2021 1 57 205-212. Bychkov I O, Itkis Y S, Tsygankova P G, Krylova T D, Mikhaylova S V, Klyushnikov S A, Pechatnikova N L, Degtyareva A V, Nikolaeva E A, Seliverstov Y A, Kurbatov S A, Dadali E L, Rudenskaya G E, Illarioshkin S N, Zakharova E |
Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome. Journal of neurology 2021 1 268 (6): 2192-2207. Chakrabarty Sanjiban, Govindaraj Periyasamy, Sankaran Bindu Parayil, Nagappa Madhu, Kabekkodu Shama Prasada, Jayaram Pradyumna, Mallya Sandeep, Deepha Sekar, Ponmalar J N Jessiena, Arivinda Hanumanthapura R, Meena Angamuthu Kanikannan, Jha Rajan Kumar, Sinha Sanjib, Gayathri Narayanappa, Taly Arun B, Thangaraj Kumarasamy, Satyamoorthy Kapaet |
Discovery and Functional Characterization of Two Regulatory Variants Underlying Lupus Susceptibility at 2p13.1. Genes 2022 Jun 13 (6): . Fazel-Najafabadi Mehdi, Rallabandi Harikrishna-Reddy, Singh Manish K, Maiti Guru P, Morris Jacqueline, Looger Loren L, Nath Swapan |
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