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IDH2 Mutations in P...
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Kranendijk, Martijn
(author)
IDH2 Mutations in Patients with D-2-Hydroxyglutaric Aciduria.
- Article/chapterEnglish2010
Publisher, publication year, extent ...
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American Association for the Advancement of Science (AAAS),2010
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/127444
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https://gup.ub.gu.se/publication/127444URI
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https://doi.org/10.1126/science.1192632DOI
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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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 and genre
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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,1947Gothenburg University,Göteborgs universitet,Institutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin,Institute of Biomedicine, Department of Clinical Chemistry and Transfusion Medicine(Swepub:gu)xholme
(author)
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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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Göteborgs universitetInstitutionen för biomedicin, avdelningen för klinisk kemi och transfusionsmedicin
(creator_code:org_t)
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In:Science (New York, N.Y.): American Association for the Advancement of Science (AAAS)330:60021095-92030036-8075
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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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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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