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Gene identification for the cblD defect of vitamin B12 metabolism.
Coelho D, Suormala T, Stucki M, Lerner-Ellis JP, Rosenblatt DS, Newbold RF, Baumgartner MR, Fowler B. Coelho D, et al. Among authors: newbold rf. N Engl J Med. 2008 Apr 3;358(14):1454-64. doi: 10.1056/NEJMoa072200. N Engl J Med. 2008. PMID: 18385497 Free article.
Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR. Sugiana C, et al. Among authors: newbold rf. Am J Hum Genet. 2008 Oct;83(4):468-78. doi: 10.1016/j.ajhg.2008.09.009. Am J Hum Genet. 2008. PMID: 18940309 Free PMC article.
105 results