These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
169 related articles for article (PubMed ID: 2077351)
1. Frameshift mutation in exon 3 of the lipoprotein lipase gene causes a premature stop codon and lipoprotein lipase deficiency. Henderson HE; Devlin R; Peterson J; Brunzell JD; Hayden MR Mol Biol Med; 1990 Dec; 7(6):511-7. PubMed ID: 2077351 [TBL] [Abstract][Full Text] [Related]
2. [Analysis, identification and correction of some errors of model refseqs appeared in NCBI Human Gene Database by in silico cloning and experimental verification of novel human genes]. Zhang DL; Ji L; Li YD Yi Chuan Xue Bao; 2004 May; 31(5):431-43. PubMed ID: 15478601 [TBL] [Abstract][Full Text] [Related]
3. Recurrent missense mutations at the first and second base of codon Arg243 in human lipoprotein lipase in patients of different ancestries. Ma Y; Liu MS; Chitayat D; Bruin T; Beisiegel U; Benlian P; Foubert L; De Gennes JL; Funke H; Forsythe I Hum Mutat; 1994; 3(1):52-8. PubMed ID: 7906986 [TBL] [Abstract][Full Text] [Related]
4. A novel substitution at the translation initiator codon (ATG-->ATC) of the lipoprotein lipase gene is mainly responsible for lipoprotein lipase deficiency in a patient with severe hypertriglyceridemia and recurrent pancreatitis. Yu XH; Zhao TQ; Wang L; Liu ZP; Zhang CM; Chen R; Li L; Liu G; Hu WC Biochem Biophys Res Commun; 2006 Mar; 341(1):82-7. PubMed ID: 16431216 [TBL] [Abstract][Full Text] [Related]
5. A novel missense mutation in the gene for lipoprotein lipase resulting in a highly conservative amino acid substitution (Asp180-->Glu) causes familial chylomicronemia (type I hyperlipoproteinemia). Haubenwallner S; Hörl G; Shachter NS; Presta E; Fried SK; Höfler G; Kostner GM; Breslow JL; Zechner R Genomics; 1993 Nov; 18(2):392-6. PubMed ID: 8288243 [TBL] [Abstract][Full Text] [Related]
6. 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 A; Ikeda Y; Tsutsumi Z; Shoji T; Yamamoto A J Clin Invest; 1992 Feb; 89(2):581-91. PubMed ID: 1737848 [TBL] [Abstract][Full Text] [Related]
7. Pathogenic mutations of the lipoprotein lipase gene in Chinese patients with hypertriglyceridemic type 2 diabetes. Yang T; Pang CP; Tsang MW; Lam CW; Poon PM; Chan LY; Wu XQ; Tomlinson B; Baum L Hum Mutat; 2003 Apr; 21(4):453. PubMed ID: 12655575 [TBL] [Abstract][Full Text] [Related]
8. Compound heterozygosity for a new (S259G) and a previously described (G188E) mutation in lipoprotein lipase (LpL) as a cause of chylomicronemia. Mutations in brief no. 183. Online. Evans D; Wendt D; Ahle S; Guerra A; Beisiegel U Hum Mutat; 1998; 12(3):217. PubMed ID: 10660334 [TBL] [Abstract][Full Text] [Related]
9. Two novel mutations consisting in minor gene rearrangements in the human low density lipoprotein receptor gene in Italian patients affected by familial hypercholesterolemia. Mutations in brief no. 194. Online. Motti C; Bertolini S; Rampa P; Trovatello G; Liberatoscioli L; Calandra S; Federici G; Cortese C Hum Mutat; 1998; 12(3):290. PubMed ID: 10660340 [TBL] [Abstract][Full Text] [Related]
10. Familial lipoprotein lipase deficiency caused by known (G188E) and novel (W394X) LPL gene mutations. Hooper AJ; Crawford GM; Brisbane JM; Robertson K; Watts GF; van Bockxmeer FM; Burnett JR Ann Clin Biochem; 2008 Jan; 45(Pt 1):102-5. PubMed ID: 18275685 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Two mutations in exon XII of the protein S alpha gene in four thrombophilic families resulting in premature stop codons and depressed levels of mutated mRNA. Andersen BD; Lind B; Philips M; Hansen AB; Ingerslev J; Thorsen S Thromb Haemost; 1996 Aug; 76(2):143-50. PubMed ID: 8865520 [TBL] [Abstract][Full Text] [Related]
13. Molecular basis of antithrombin type I deficiency: the first large in-frame deletion and two novel mutations in exon 6. Emmerich J; Chadeuf G; Alhenc-Gelas M; Gouault-Heilman M; Toulon P; Fiessinger JN; Aiach M Thromb Haemost; 1994 Oct; 72(4):534-9. PubMed ID: 7878627 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. Missense mutation W86R in exon 3 of the lipoprotein lipase gene in a boy with chylomicronemia. Pasalić D; Jurcić Z; Stipancić G; Ferencak G; Leren TP; Djurovic S; Stavljenić-Rukavina A Clin Chim Acta; 2004 May; 343(1-2):179-84. PubMed ID: 15115692 [TBL] [Abstract][Full Text] [Related]
17. Novel LPL mutations associated with lipoprotein lipase deficiency: two case reports and a literature review. Rahalkar AR; Giffen F; Har B; Ho J; Morrison KM; Hill J; Wang J; Hegele RA; Joy T Can J Physiol Pharmacol; 2009 Mar; 87(3):151-60. PubMed ID: 19295657 [TBL] [Abstract][Full Text] [Related]
19. 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 J; Inadera H; Fujita Y; Talley G; Morisaki N; Yoshida S; Saito Y; Fojo SS; Brewer HB Biochem Biophys Res Commun; 1994 Nov; 205(1):506-15. PubMed ID: 7999071 [TBL] [Abstract][Full Text] [Related]
20. Complete deficiencies of complement C4A and C4B including 2-bp insertion in codon 1213 are genetic risk factors of systemic lupus erythematosus in Thai populations. Ittiprasert W; Kantachuvesiri S; Pavasuthipaisit K; Verasertniyom O; Chaomthum L; Totemchokchyakarn K; Kitiyanant Y J Autoimmun; 2005 Aug; 25(1):77-84. PubMed ID: 15998580 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]