129 related articles for article (PubMed ID: 9225235)
1. A novel nonsense mutation in exon 1 and a transition in intron 3 of the lipoprotein lipase gene.
Nakamura T; Suehiro T; Yasuoka N; Yamamoto M; Ito H; Yamano T; Hashimoto K
J Atheroscler Thromb; 1996; 3(1):17-24. PubMed ID: 9225235
[TBL] [Abstract][Full Text] [Related]
2. Novel compound heterozygous mutations for lipoprotein lipase deficiency. A G-to-T transversion at the first position of exon 5 causing G154V missense mutation and a 5' splice site mutation of intron 8.
Ikeda Y; Takagi A; Nakata Y; Sera Y; Hyoudou S; Hamamoto K; Nishi Y; Yamamoto A
J Lipid Res; 2001 Jul; 42(7):1072-81. PubMed ID: 11441134
[TBL] [Abstract][Full Text] [Related]
3. Two novel mutations in the lipoprotein lipase gene in a family with marked hypertriglyceridemia in heterozygous carriers. Potential interaction with the polymorphic marker D1S104 on chromosome 1q21-q23.
Hölzl B; Kraft HG; Wiebusch H; Sandhofer A; Patsch J; Sandhofer F; Paulweber B
J Lipid Res; 2000 May; 41(5):734-41. PubMed ID: 10787434
[TBL] [Abstract][Full Text] [Related]
4. Molecular screening of the lipoprotein lipase gene in hypertriglyceridemic members of familial noninsulin-dependent diabetes mellitus families.
Elbein SC; Yeager C; Kwong LK; Lingam A; Inoue I; Lalouel JM; Wilson DE
J Clin Endocrinol Metab; 1994 Nov; 79(5):1450-6. PubMed ID: 7962342
[TBL] [Abstract][Full Text] [Related]
5. A family-based study of hyperinsulinemia and hypertriglyceridemia in heterozygous lipoprotein lipase deficiency.
Ikeda Y; Takagi A; Nakata Y; Sera Y; Hyoudou S; Hamamoto K; Nishi Y; Yamamoto A
Clin Chim Acta; 2002 Feb; 316(1-2):179-85. PubMed ID: 11750290
[TBL] [Abstract][Full Text] [Related]
6. Newly identified missense mutation reduces lipoprotein lipase activity in Taiwanese patients with hypertriglyceridemia.
Kao JT; Hsiao WH; Yu CJ; Chiang FT
J Formos Med Assoc; 1999 Sep; 98(9):606-12. PubMed ID: 10560236
[TBL] [Abstract][Full Text] [Related]
7. Genetic screening of the lipoprotein lipase gene for mutations in Chinese subjects with or without hypertriglyceridemia.
Yang Y; Mu Y; Zhao Y; Liu X; Zhao L; Wang J; Xie Y
J Genet Genomics; 2007 May; 34(5):381-91. PubMed ID: 17560523
[TBL] [Abstract][Full Text] [Related]
8. [The application of end user computing (EUC) for detection of lipoprotein lipase gene abnormality].
Li J; Kobori K; Kondo A; Yonekawa O; Kanno T
Rinsho Byori; 1999 Aug; 47(8):737-43. PubMed ID: 10511805
[TBL] [Abstract][Full Text] [Related]
9. Novel LMF1 nonsense mutation in a patient with severe hypertriglyceridemia.
Cefalù AB; Noto D; Arpi ML; Yin F; Spina R; Hilden H; Barbagallo CM; Carroccio A; Tarugi P; Squatrito S; Vigneri R; Taskinen MR; Péterfy M; Averna MR
J Clin Endocrinol Metab; 2009 Nov; 94(11):4584-90. PubMed ID: 19820022
[TBL] [Abstract][Full Text] [Related]
10. A novel amino acid substitution (His183-->Gln) in exon 5 of the lipoprotein lipase gene results in loss of catalytic activity: phenotypic expression of the mutant gene in a heterozygous state.
Tenkanen H; Taskinen MR; Antikainen M; Ulmanen I; Kontula K; Ehnholm C
J Lipid Res; 1994 Feb; 35(2):220-8. PubMed ID: 8169525
[TBL] [Abstract][Full Text] [Related]
11. Lipoprotein lipase deficiency due to a 3' splice site mutation in intron 6 of the lipoprotein lipase gene.
Hölzl B; Huber R; Paulweber B; Patsch JR; Sandhofer F
J Lipid Res; 1994 Dec; 35(12):2161-9. PubMed ID: 7897314
[TBL] [Abstract][Full Text] [Related]
12. Pseudodominance of lipoprotein lipase (LPL) deficiency due to a nonsense mutation (Tyr302>Term) in exon 6 of LPL gene in an Italian family from Sardinia (LPL(Olbia)).
Bertolini S; Simone ML; Pes GM; Ghisellini M; Rolleri M; Bellocchio A; Elicio N; Masturzo P; Calandra S
Clin Genet; 2000 Feb; 57(2):140-7. PubMed ID: 10735636
[TBL] [Abstract][Full Text] [Related]
13. A novel nonsense mutation in the LPL gene in a Chinese neonate with hypertriglyceridemia.
Chan AO; But WM; Lau GT; Tse WY; Shek CC
Clin Chim Acta; 2006 Jun; 368(1-2):120-4. PubMed ID: 16460718
[TBL] [Abstract][Full Text] [Related]
14. Mutations in exon 3 of the lipoprotein lipase gene segregating in a family with hypertriglyceridemia, pancreatitis, and non-insulin-dependent diabetes.
Wilson DE; Hata A; Kwong LK; Lingam A; Shuhua J; Ridinger DN; Yeager C; Kaltenborn KC; Iverius PH; Lalouel JM
J Clin Invest; 1993 Jul; 92(1):203-11. PubMed ID: 8325986
[TBL] [Abstract][Full Text] [Related]
15. The LPL gene in individuals with familial combined hyperlipidemia and decreased LPL activity.
Nevin DN; Brunzell JD; Deeb SS
Arterioscler Thromb; 1994 Jun; 14(6):869-73. PubMed ID: 8199176
[TBL] [Abstract][Full Text] [Related]
16. Lipoprotein lipase genotypes for a common premature termination codon mutation detected by PCR-mediated site-directed mutagenesis and restriction digestion.
Stocks J; Thorn JA; Galton DJ
J Lipid Res; 1992 Jun; 33(6):853-7. PubMed ID: 1355102
[TBL] [Abstract][Full Text] [Related]
17. Rare variants in the lipoprotein lipase (LPL) gene are common in hypertriglyceridemia but rare in Type III hyperlipidemia.
Evans D; Arzer J; Aberle J; Beil FU
Atherosclerosis; 2011 Feb; 214(2):386-90. PubMed ID: 21159338
[TBL] [Abstract][Full Text] [Related]
18. Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.
Soto AG; McIntyre A; Agrawal S; Bialo SR; Hegele RA; Boney CM
Lipids Health Dis; 2015 Sep; 14():102. PubMed ID: 26337181
[TBL] [Abstract][Full Text] [Related]
19. Novel mutations of the lipoprotein lipase gene associated with hypertriglyceridemia in members of type 2 diabetic pedigrees.
Hu Y; Ren Y; Luo RZ; Mao X; Li X; Cao X; Guan L; Chen X; Li J; Long Y; Zhang X; Tian H
J Lipid Res; 2007 Aug; 48(8):1681-8. PubMed ID: 17476032
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the lipoprotein lipase gene as a cause of hypertriglyceridemia and pancreatitis in Taiwan.
Jap TS; Jenq SF; Wu YC; Chiu CY; Cheng HM
Pancreas; 2003 Aug; 27(2):122-6. PubMed ID: 12883259
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
