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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1993 | 1 |
1994 | 1 |
1995 | 1 |
2006 | 1 |
2008 | 1 |
2009 | 1 |
2018 | 1 |
2024 | 0 |
PubMed (OMIM) for id: 2222
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Squalene Synthase Deficiency: Clinical, Biochemical, and Molecular Characterization of a Defect in Cholesterol Biosynthesis.
Am J Hum Genet. 2018 Jul 5;103(1):125-130. doi: 10.1016/j.ajhg.2018.05.004. Epub 2018 Jun 14.
Am J Hum Genet. 2018.
PMID: 29909962
Free PMC article.
Squalene synthase: a critical enzyme in the cholesterol biosynthesis pathway.
Do R, Kiss RS, Gaudet D, Engert JC.
Do R, et al.
Clin Genet. 2009 Jan;75(1):19-29. doi: 10.1111/j.1399-0004.2008.01099.x. Epub 2008 Nov 27.
Clin Genet. 2009.
PMID: 19054015
Review.
Item in Clipboard
Lanosterol synthase mutations cause cholesterol deficiency-associated cataracts in the Shumiya cataract rat.
Mori M, Li G, Abe I, Nakayama J, Guo Z, Sawashita J, Ugawa T, Nishizono S, Serikawa T, Higuchi K, Shumiya S.
Mori M, et al.
J Clin Invest. 2006 Feb;116(2):395-404. doi: 10.1172/JCI20797. Epub 2006 Jan 26.
J Clin Invest. 2006.
PMID: 16440058
Free PMC article.
Item in Clipboard
Localization of the squalene synthase gene (FDFT1) to human chromosome 8p22-p23.1.
Shechter I, Conrad DG, Hart I, Berger RC, McKenzie TL, Bleskan J, Patterson D.
Shechter I, et al.
Genomics. 1994 Mar 1;20(1):116-8. doi: 10.1006/geno.1994.1135.
Genomics. 1994.
PMID: 8020937
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Transcriptional regulation by lovastatin and 25-hydroxycholesterol in HepG2 cells and molecular cloning and expression of the cDNA for the human hepatic squalene synthase.
Jiang G, McKenzie TL, Conrad DG, Shechter I.
Jiang G, et al.
J Biol Chem. 1993 Jun 15;268(17):12818-24.
J Biol Chem. 1993.
PMID: 7685352
Free article.
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Molecular cloning and functional analysis of the promoter of the human squalene synthase gene.
Guan G, Jiang G, Koch RL, Shechter I.
Guan G, et al.
J Biol Chem. 1995 Sep 15;270(37):21958-65. doi: 10.1074/jbc.270.37.21958.
J Biol Chem. 1995.
PMID: 7665618
Free article.
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