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PubMed (cited) for id: 601730
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Mutations in the phosphatidylinositol glycan C (PIGC) gene are associated with epilepsy and intellectual disability.
J Med Genet. 2017 Mar;54(3):196-201. doi: 10.1136/jmedgenet-2016-104202. Epub 2016 Sep 30.
J Med Genet. 2017.
PMID: 27694521
The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.
Watanabe R, Inoue N, Westfall B, Taron CH, Orlean P, Takeda J, Kinoshita T.
Watanabe R, et al.
EMBO J. 1998 Feb 16;17(4):877-85. doi: 10.1093/emboj/17.4.877.
EMBO J. 1998.
PMID: 9463366
Free PMC article.
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Structures and chromosomal localizations of the glycosylphosphatidylinositol synthesis gene PIGC and its pseudogene PIGCP1.
Hong Y, Ohishi K, Inoue N, Endo Y, Fujita T, Takeda J, Kinoshita T.
Hong Y, et al.
Genomics. 1997 Sep 15;44(3):347-9. doi: 10.1006/geno.1997.4893.
Genomics. 1997.
PMID: 9325057
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PIG-C, one of the three human genes involved in the first step of glycosylphosphatidylinositol biosynthesis is a homologue of Saccharomyces cerevisiae GPI2.
Inoue N, Watanabe R, Takeda J, Kinoshita T.
Inoue N, et al.
Biochem Biophys Res Commun. 1996 Sep 4;226(1):193-9. doi: 10.1006/bbrc.1996.1332.
Biochem Biophys Res Commun. 1996.
PMID: 8806613
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