| 1 | CDG1M, DOLK
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| Dolichol kinase deficiency (DOLK-CDG) with a purely neurological presentation caused by a novel mutation.
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| Helander A, Stödberg T, Jaeken J, Matthijs G, Eriksson M, Eggertsen G.
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| Mol Genet Metab ol Genet Metab. 2013 Jul 10. doi:pii: S1096-7192(13)00227-8. 10.1016/j.ymgme.2013.07.002. [Epub ahead of print]
2013
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| 2 | CDG1M, DOLK
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| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
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| 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.
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| PLoS Genet 7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29.
2011
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| 3 | CDG1M, DOLK
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| Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
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| 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.
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| PLoS Genet 7(12):e1002427. doi: 10.1371/journal.pgen.1002427. Epub 2011 Dec 29.
2011
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| 4 | ALG1, ALG12, ALG2, ALG3, ALG6, ALG8, ALG9, CDG1A, CDG1B, CDG1C, CDG1D, CDG1E, CDG1F, CDG1G, CDG1H, CDG1I, CDG1J, CDG1K, CDG1L, CDG1N, CDG1O, DK1D, DOLK, DPAGT1, DPM1, DPM3, MPDU1, MPI, PMM2, RFT1
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| Congenital disorders of glycosylation: An update on defects affecting the biosynthesis of dolichol-linked oligosaccharides.
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| Haeuptle MA, Hennet T.
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| Hum Mutat um Mutat. 2009 Oct 27. [Epub ahead of print] 2009
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| 5 | DOLK, DK1D
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| A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
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| 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.
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| Am J Hum Genet 80(3):433-40. Epub 2007 Jan 31. 2007
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| 6 | DOLK
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| Human dolichol kinase, a polytopic endoplasmic reticulum membrane protein with a cytoplasmically oriented CTP-binding site.
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| Shridas P, Waechter CJ.
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| J Biol Chem 281(42):31696-704. Epub 2006 Aug 21. 2006
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| 7 | AAK1, ANKRD26, ARHGEF4, CEP131, CEP164, DOCK9, DOLK, DOPEY1, EPN2, GARNL4, HIC2, KIAA1033, KIAA1109, LIMCH1, LMTK2, MYT1, NLGN1, OTUD4, PDZRN3, PITRM1, PLCH1, PLCL2, PPM1E, RAP140, RNF44, SAMD4A, SAPS1, SATB2, SCAF8, SLC8A2, SMG5, SON, SULF1, SV2C, SYNPO, TBC1D2B, TRAK1, TRIM33, TRIM35, TTC28, USP2, USP22, USP24, WDTC1, ZC3H4, ZFR2, ZNF507
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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.
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| Kikuno R, Nagase T, Ishikawa K, Hirosawa M, Miyajima N, Tanaka A, Kotani H, Nomura N, Ohara O.
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| DNA Res 6(3):197-205. 1999
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