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IDH2 Mutations in P...
IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria.
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Kranendijk, Martijn (author)
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Struys, Eduard A (author)
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van Schaftingen, Emile (author)
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Gibson, K Michael (author)
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Kanhai, Warsha A (author)
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van der Knaap, Marjo S (author)
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Amiel, Jeanne (author)
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Buist, Neil R (author)
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Das, Anibh M (author)
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de Klerk, Johannis B (author)
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Feigenbaum, Annette S (author)
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Grange, Dorothy K (author)
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Hofstede, Floris C (author)
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- Holme, Elisabeth, 1947 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine
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Kirk, Edwin P (author)
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Korman, Stanley H (author)
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Morava, Eva (author)
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Morris, Andrew (author)
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Smeitink, Jan (author)
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Sukhai, Rám N (author)
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Vallance, Hilary (author)
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Jakobs, Cornelis (author)
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Salomons, Gajja S (author)
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(creator_code:org_t)
- American Association for the Advancement of Science (AAAS), 2010
- 2010
- English.
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In: Science (New York, N.Y.). - : American Association for the Advancement of Science (AAAS). - 1095-9203 .- 0036-8075. ; 330:6002
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https://doi.org/10.1...
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Abstract
Subject headings
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- Heterozygous somatic mutations in the genes encoding isocitrate dehydrogenase- 1 and -2 (IDH1 and IDH2) were recently discovered in human neoplastic disorders. These mutations disable the enzymes' normal ability to convert isocitrate to 2-ketoglutarate (2-KG) and confer on the enzymes a new function: the ability to convert 2-KG to d-2-hydroxyglutarate (D-2-HG). We have detected heterozygous germline mutations in IDH2 that alter enzyme residue R140 in 15 unrelated patients with d-2-hydroxyglutaric aciduria (D-2-HGA), a rare neurometabolic disorder characterized by supraphysiological levels of D-2-HG. These findings provide additional impetus for investigating the role of D-2-HG in the pathophysiology of metabolic disease and cancer.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinsk bioteknologi -- Medicinsk bioteknologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Medical Biotechnology -- Medical Biotechnology (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Annan klinisk medicin (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Other Clinical Medicine (hsv//eng)
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- art (subject category)
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- By the author/editor
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Kranendijk, Mart ...
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Struys, Eduard A
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van Schaftingen, ...
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Gibson, K Michae ...
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Kanhai, Warsha A
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van der Knaap, M ...
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show more...
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Amiel, Jeanne
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Buist, Neil R
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Das, Anibh M
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de Klerk, Johann ...
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Feigenbaum, Anne ...
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Grange, Dorothy ...
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Hofstede, Floris ...
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Holme, Elisabeth ...
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Kirk, Edwin P
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Korman, Stanley ...
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Morava, Eva
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Morris, Andrew
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Smeitink, Jan
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Sukhai, Rám N
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Vallance, Hilary
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Jakobs, Cornelis
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Salomons, Gajja ...
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University of Gothenburg