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4. Detection of a new compound heterozygote (del G916/G1401A) for lipoprotein lipase deficiency and a comparative haplotype analysis of the mutant lipoprotein lipase gene from Japanese patients. Okubo M; Inoue S; Horinishi A; Ogihara T; Kaneko K; Gotoda T; Yamada N; Murase T Atherosclerosis; 1999 Jun; 144(2):443-7. PubMed ID: 10407506 [No Abstract] [Full Text] [Related]
5. Familial chylomicronemia (type I hyperlipoproteinemia) due to a single missense mutation in the lipoprotein lipase gene. Ameis D; Kobayashi J; Davis RC; Ben-Zeev O; Malloy MJ; Kane JP; Lee G; Wong H; Havel RJ; Schotz MC J Clin Invest; 1991 Apr; 87(4):1165-70. PubMed ID: 2010533 [TBL] [Abstract][Full Text] [Related]
6. Identification of two separate allelic mutations in the lipoprotein lipase gene of a patient with the familial hyperchylomicronemia syndrome. Dichek HL; Fojo SS; Beg OU; Skarlatos SI; Brunzell JD; Cutler GB; Brewer HB J Biol Chem; 1991 Jan; 266(1):473-7. PubMed ID: 1702428 [TBL] [Abstract][Full Text] [Related]
7. Lipoprotein lipase deficiency resulting from a nonsense mutation in exon 3 of the lipoprotein lipase gene. Emi M; Hata A; Robertson M; Iverius PH; Hegele R; Lalouel JM Am J Hum Genet; 1990 Jul; 47(1):107-11. PubMed ID: 2349938 [TBL] [Abstract][Full Text] [Related]
8. [Familial hyperchylomicronemia with a new mutation of the lipoprotein lipase gene]. Causeret AS; Souillet AL; Marcais C; Prunetta V; Lachaux A; Faure M; Claudy A Ann Dermatol Venereol; 2001 Dec; 128(12):1343-5. PubMed ID: 11908140 [TBL] [Abstract][Full Text] [Related]
9. Lipoprotein lipase (LPL) deficiency: a new patient homozygote for the preponderant mutation Gly188Glu in the human LPL gene and review of reported mutations: 75 % are clustered in exons 5 and 6. Gilbert B; Rouis M; Griglio S; de Lumley L; Laplaud P Ann Genet; 2001; 44(1):25-32. PubMed ID: 11334614 [TBL] [Abstract][Full Text] [Related]
11. Missense mutation Leu72Pro located on the carboxyl terminal amphipathic helix of apolipoprotein C-II causes familial chylomicronemia syndrome. Lam CW; Yuen YP; Cheng WF; Chan YW; Tong SF Clin Chim Acta; 2006 Feb; 364(1-2):256-9. PubMed ID: 16153625 [TBL] [Abstract][Full Text] [Related]
12. Compound heterozygosity for a known (D250N) and a novel (E410K) missense mutation in the C-terminal domain of lipoprotein lipase causes familial chylomicronemia. Wiebusch H; Funke H; Bruin T; Bucher H; von Eckardstein A; Kastelein JJ; Assmann G Hum Mutat; 1996; 8(4):381-3. PubMed ID: 8956048 [No Abstract] [Full Text] [Related]
13. Type I hyperlipoproteinemia due to a novel loss of function mutation of lipoprotein lipase, Cys(239)-->Trp, associated with recurrent severe pancreatitis. Hoffmann MM; Jacob S; Luft D; Schmülling RM; Rett K; März W; Häring HU; Matthaei S J Clin Endocrinol Metab; 2000 Dec; 85(12):4795-8. PubMed ID: 11134145 [TBL] [Abstract][Full Text] [Related]
14. A novel missense (E163G) mutation in the catalytic subunit of lipoprotein lipase causes familial chylomicronemia. Wiebusch H; Funke H; Santer R; Richter W; Assmann G Hum Mutat; 1996; 8(4):392. PubMed ID: 8956052 [No Abstract] [Full Text] [Related]
15. A compound heterozygote for a novel missense mutation (G105R) in exon 3 and a missense mutation (D204E) in exon 5 of the lipoprotein lipase gene in a Japanese infant with hyperchylomicronaemia. Ikeda Y; Goji K; Takagi A Clin Sci (Lond); 2000 Dec; 99(6):569-78. PubMed ID: 11099402 [TBL] [Abstract][Full Text] [Related]
16. [Method for the molecular diagnosis of lipoprotein lipase genetic deficiency]. Ionescu CR; Petrescu-Dănilă E; Voicu PM; Durbală I; Botnariu G; Graur M; Petrovanu R; Dimofte I Rev Med Chir Soc Med Nat Iasi; 2005; 109(4):848-53. PubMed ID: 16612849 [TBL] [Abstract][Full Text] [Related]
17. A G----C change at the donor splice site of intron 1 causes lipoprotein lipase deficiency in a southern-Italian family. Chimienti G; Capurso A; Resta F; Pepe G Biochem Biophys Res Commun; 1992 Sep; 187(2):620-7. PubMed ID: 1530621 [TBL] [Abstract][Full Text] [Related]
18. Familial lipoprotein lipase deficiency: a case of compound heterozygosity of a novel duplication (R44Kfs*4) and a common mutation (N291S) in the lipoprotein lipase gene. Overgaard M; Brasen CL; Svaneby D; Feddersen S; Nybo M Ann Clin Biochem; 2013 Jul; 50(Pt 4):374-9. PubMed ID: 23761384 [TBL] [Abstract][Full Text] [Related]
19. A 4 basepair deletion in exon 4 of the human lipoprotein lipase gene results in type I hyperlipoproteinemia. Ma Y; Liu MS; Zhang H; Forsythe IJ; Brunzell JD; Hayden MR Hum Mol Genet; 1993 Jul; 2(7):1049-50. PubMed ID: 8364543 [No Abstract] [Full Text] [Related]
20. A missense mutation Pro157 Arg in lipoprotein lipase (LPLNijmegen) resulting in loss of catalytic activity. Bruin T; Kastelein JJ; Van Diermen DE; Ma Y; Henderson HE; Stuyt PM; Stalenhoef AF; Sturk A; Brunzell JD; Hayden MR Eur J Biochem; 1992 Sep; 208(2):267-72. PubMed ID: 1521525 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]