Funder
Ministry of Education, Culture, Sports, Science and Technology
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference21 articles.
1. J.R. Burnett, A.J. Hooper, R.A. Hegele, Familial Lipoprotein Lipase Deficiency. 1999 Oct 12 [updated 2017 Jun 22], in: M.P. Adam, H.H. Ardinger, R.A. Pagon, S.E. Wallace, L.J.H. Bean, G. Mirzaa, A. Amemiya, (Eds.), GeneReviews® [Internet], University of Washington, Seattle (WA), 1993–2021.
2. Molecular studies on primary lipoprotein lipase (LPL) deficiency. One base deletion (G916) in exon 5 of LPL gene causes no detectable LPL protein due to the absence of LPL mRNA transcript;Takagi;J. Clin. Invest.,1992
3. A newly identified heterozygous lipoprotein lipase gene mutation (Cys239–>stop/TGC972–>TGA; LPL obama) in a patient with primary type IV hyperlipoproteinemia;Takagi;J. Lipid Res.,1994
4. A naturally occurring mutation at the second base of codon asparagine 43 in the proposed N-linked glycosylation site of human lipoprotein lipase: in vivo evidence that asparagine 43 is essential for catalysis and secretion;Kobayashi;Biochem. Biophys. Res. Commun.,1994
5. A novel frameshift mutation in exon 6 (the site of Asn 291) of the lipoprotein lipase gene in type I hyperlipidemia;Kobayashi;Clin. Chim. Acta,1999
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