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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2006 | 1 |
2007 | 1 |
2011 | 1 |
2017 | 1 |
2020 | 1 |
2024 | 0 |
PubMed (GeneRIF) for id: 22845
5 results
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Page 1
Fatal hyperkeratosis syndrome in four siblings due to dolichol kinase deficiency.
Am J Med Genet A. 2020 Jun;182(6):1421-1425. doi: 10.1002/ajmg.a.61574. Epub 2020 Apr 6.
Am J Med Genet A. 2020.
PMID: 32250540
Dolichol kinase deficiency (DOLK-CDG): Two new cases and expansion of phenotype.
Rush ET, Baker CV, Rizzo WB.
Rush ET, et al.
Am J Med Genet A. 2017 Sep;173(9):2428-2434. doi: 10.1002/ajmg.a.38287.
Am J Med Genet A. 2017.
PMID: 28816422
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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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