IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Martijn Kranendijk; Eduard A. Struys; Emile Van Schaftingen; K. Michael Gibson; Warsha A. Kanhai; Marjo S. Van Der Knaap; Jeanne Amiel; Neil R. Buist; Anibh M. Das; Johannis B. De Klerk; Annette S. Feigenbaum; Dorothy K. Grange; Floris C. Hofstede; Elisabeth Holme; Edwin P. Kirk; Stanley H. Korman; Eva Morava; Andrew Morris; Jan Smeitink; Rám N. Sukhai; Hilary Vallance; Cornelis Jakobs; Gajja S. Salomons

doi:10.1126/science.1192632

IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

Martijn Kranendijk, Eduard A. Struys, Emile Van Schaftingen, K. Michael Gibson, Warsha A. Kanhai, Marjo S. Van Der Knaap, Jeanne Amiel, Neil R. Buist, Anibh M. Das, Johannis B. De Klerk, Annette S. Feigenbaum, Dorothy K. Grange, Floris C. Hofstede, Elisabeth Holme, Edwin P. Kirk, Stanley H. Korman, Eva Morava, Andrew Morris, Jan Smeitink, Rám N. SukhaiHilary Vallance, Cornelis Jakobs, Gajja S. Salomons

Medical Genetics

Research output: Contribution to journal › Short survey › peer-review

132 Scopus citations

Original language	English (US)
Pages (from-to)	336
Number of pages	1
Journal	Science
Volume	330
Issue number	6002
DOIs	https://doi.org/10.1126/science.1192632
State	Published - Oct 15 2010

ASJC Scopus subject areas

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Kranendijk, M., Struys, E. A., Van Schaftingen, E., Gibson, K. M., Kanhai, W. A., Van Der Knaap, M. S., Amiel, J., Buist, N. R., Das, A. M., De Klerk, J. B., Feigenbaum, A. S., Grange, D. K., Hofstede, F. C., Holme, E., Kirk, E. P., Korman, S. H., Morava, E., Morris, A., Smeitink, J., ... Salomons, G. S. (2010). IDH2 mutations in patients with D-2-hydroxyglutaric aciduria. Science, 330(6002), 336. https://doi.org/10.1126/science.1192632

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 2010, 'IDH2 mutations in patients with D-2-hydroxyglutaric aciduria', Science, vol. 330, no. 6002, pp. 336. https://doi.org/10.1126/science.1192632

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title = "IDH2 mutations in patients with D-2-hydroxyglutaric aciduria",

author = "Martijn Kranendijk and Struys, {Eduard A.} and {Van Schaftingen}, Emile and Gibson, {K. Michael} and Kanhai, {Warsha A.} and {Van Der Knaap}, {Marjo S.} and Jeanne Amiel and Buist, {Neil R.} and Das, {Anibh M.} and {De Klerk}, {Johannis B.} and Feigenbaum, {Annette S.} and Grange, {Dorothy K.} and Hofstede, {Floris C.} and Elisabeth Holme and Kirk, {Edwin P.} and Korman, {Stanley H.} and Eva Morava and Andrew Morris and Jan Smeitink and Sukhai, {R{\'a}m N.} and Hilary Vallance and Cornelis Jakobs and Salomons, {Gajja S.}",

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T1 - IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

AU - Kranendijk, Martijn

AU - Struys, Eduard A.

AU - Van Schaftingen, Emile

AU - Gibson, K. Michael

AU - Kanhai, Warsha A.

AU - Van Der Knaap, Marjo S.

AU - Amiel, Jeanne

AU - Buist, Neil R.

AU - Das, Anibh M.

AU - De Klerk, Johannis B.

AU - Feigenbaum, Annette S.

AU - Grange, Dorothy K.

AU - Hofstede, Floris C.

AU - Holme, Elisabeth

AU - Kirk, Edwin P.

AU - Korman, Stanley H.

AU - Morava, Eva

AU - Morris, Andrew

AU - Smeitink, Jan

AU - Sukhai, Rám N.

AU - Vallance, Hilary

AU - Jakobs, Cornelis

AU - Salomons, Gajja S.

PY - 2010/10/15

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U2 - 10.1126/science.1192632

DO - 10.1126/science.1192632

M3 - Short survey

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SN - 0036-8075

VL - 330

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JO - Science

JF - Science

IS - 6002

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IDH2 mutations in patients with D-2-hydroxyglutaric aciduria

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