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Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.
Lee YR, Khan K, Armfield-Uhas K, Srikanth S, Thompson NA, Pardo M, Yu L, Norris JW, Peng Y, Gripp KW, Aleck KA, Li C, Spence E, Choi TI, Kwon SJ, Park HM, Yu D, Heo WD, Mooney MR, Baig SM, Wentzensen IM, Telegrafi A, McWalter K, Moreland T, Roadhouse C, Ramsey K, Lyons MJ, Skinner C, Alexov E, Katsanis N, Stevenson RE, Choudhary JS, Adams DJ, Kim CH, Davis EE, Schwartz CE. Lee YR, et al. Among authors: kwon sj. Nat Commun. 2020 Jul 23;11(1):3698. doi: 10.1038/s41467-020-17452-6. Nat Commun. 2020. PMID: 32703943 Free PMC article.
Profiling of mitochondrial proteome in wheat roots.
Kim DE, Roy SK, Kamal AH, Cho K, Kwon SJ, Cho SW, Park CS, Choi JS, Komatsu S, Lee MS, Woo SH. Kim DE, et al. Among authors: kwon sj. Mol Biol Rep. 2014 Aug;41(8):5359-66. doi: 10.1007/s11033-014-3407-z. Epub 2014 Jun 24. Mol Biol Rep. 2014. PMID: 24958017