검색결과 : 2건
No. | Article |
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1 |
IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria Kranendijk M, Struys EA, van Schaftingen E, Gibson KM, Kanhai WA, van der Knaap MS, Amiel J, Buist NR, Das AM, de Klerk JB, Feigenbaum AS, Grange DK, Hofstede FC, Holme E, Kirk EP, Korman SH, Morava E, Morris A, Smeitink J, Sukhai RN, Vallance H, Jakobs C, Salomons GS Science, 330(6002), 336, 2010 |
2 |
Characterization of the human porin isoform 1 (HVDAC1) gene by amplification on the whole human genome: A tool for porin deficiency analysis Messina A, Guarino F, Oliva M, van den Heuvel LP, Smeitink J, De Pinto V Biochemical and Biophysical Research Communications, 270(3), 787, 2000 |