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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1999 | 1 |
2002 | 1 |
2006 | 1 |
2007 | 1 |
2011 | 1 |
2013 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 22845
6 results
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Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
Mol Genet Metab. 2013 Nov;110(3):342-4. doi: 10.1016/j.ymgme.2013.07.002. Epub 2013 Jul 10.
Mol Genet Metab. 2013.
PMID: 23890587
Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
Lefeber DJ, de Brouwer AP, Morava E, Riemersma M, Schuurs-Hoeijmakers JH, Absmanner B, Verrijp K, van den Akker WM, Huijben K, Steenbergen G, van Reeuwijk J, Jozwiak A, Zucker N, Lorber A, Lammens M, Knopf C, van Bokhoven H, Grünewald S, Lehle L, Kapusta L, Mandel H, Wevers RA.
Lefeber DJ, et al.
PLoS Genet. 2011 Dec;7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29.
PLoS Genet. 2011.
PMID: 22242004
Free PMC article.
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A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
Kranz C, Jungeblut C, Denecke J, Erlekotte A, Sohlbach C, Debus V, Kehl HG, Harms E, Reith A, Reichel S, Grobe H, Hammersen G, Schwarzer U, Marquardt T.
Kranz C, et al.
Am J Hum Genet. 2007 Mar;80(3):433-40. doi: 10.1086/512130. Epub 2007 Jan 31.
Am J Hum Genet. 2007.
PMID: 17273964
Free PMC article.
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Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site.
Shridas P, Waechter CJ.
Shridas P, et al.
J Biol Chem. 2006 Oct 20;281(42):31696-704. doi: 10.1074/jbc.M604087200. Epub 2006 Aug 21.
J Biol Chem. 2006.
PMID: 16923818
Free article.
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Expression and characterization of a human cDNA that complements the temperature-sensitive defect in dolichol kinase activity in the yeast sec59-1 mutant: the enzymatic phosphorylation of dolichol and diacylglycerol are catalyzed by separate CTP-mediated kinase activities in Saccharomyces cerevisiae.
Fernandez F, Shridas P, Jiang S, Aebi M, Waechter CJ.
Fernandez F, et al.
Glycobiology. 2002 Sep;12(9):555-62. doi: 10.1093/glycob/cwf068.
Glycobiology. 2002.
PMID: 12213788
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Prediction of the coding sequences of unidentified human genes. XIV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro.
Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
Kikuno R, et al.
DNA Res. 1999 Jun 30;6(3):197-205. doi: 10.1093/dnares/6.3.197.
DNA Res. 1999.
PMID: 10470851
Free article.
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