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Glycerol kinase deficiency: residual activity explained by reduced transcription and enzyme conformation
- Sjarif, Damayanti R. (author)
-
- Hellerud, Christina, 1955 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för laboratoriemedicin, Avdelningen för klinisk kemi/transfusionsmedicin,Institute of Laboratory Medicine, Dept of Clinical Chemistry/Transfusion Medicine
- van Amstel, Johannes K. Ploos (author)
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- Kleijer, Willem J. (author)
- Sperl, Wolfgang (author)
- Lacombe, Dedier (author)
- Sass, Jõrn Oliver (author)
- Beemer, Frits A. (author)
- Duran, Marinus (author)
- Poll-The, Bwee Tien (author)
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- (creator_code:org_t)
- 2004-03-17
- 2004
- English.
- In: European Journal of Human Genetics. - : Springer Science and Business Media LLC. - 1018-4813 .- 1476-5438. ; 12:6, s. 424-432
- Journal article (peer-reviewed)
Subject headings
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Subject headings
- NATURVETENSKAP -- Biologi -- Genetik (hsv//swe)
- NATURAL SCIENCES -- Biological Sciences -- Genetics (hsv//eng)
Keyword
- clinical heterogeneity
- molecular findings
- gene family
- mutations
- diagnosis
- phenotype
- sequences
- complex
Publication and Content Type
- ref (subject category)
- art (subject category)
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