HuGE Literature Finder
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Molecular spectrum of SLC22A5 (OCTN2) gene mutations detected in 143 subjects evaluated for systemic carnitine deficiency. Human mutation 2010 Aug 31 (8): E1632-51. Li Fang-Yuan, El-Hattab Ayman W, Bawle Erawati V, Boles Richard G, Schmitt Eric S, Scaglia Fernando, Wong Lee-J |
Cardiomyopathy and carnitine deficiency. Molecular genetics and metabolism 2008 Jun 94 (2): 162-6. Amat di San Filippo Cristina, Taylor Matthew R G, Mestroni Luisa, Botto Lorenzo D, Longo Nico |
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