Tao F, Weinstock J, Venners S, Cheng J, Hsu Y, Zou Y
Clin Appl Thromb Hemost. 2017; 24(5):771-779.
PMID: 28891316
PMC: 6714875.
DOI: 10.1177/1076029617725601.
Shin E, Park N, Jang Y, Oh H, Jeong J, Lim Y
Genes Nutr. 2011; 7(2):331-41.
PMID: 22038562
PMC: 3316739.
DOI: 10.1007/s12263-011-0251-9.
Ma Y, Liu M, Ginzinger D, Frohlich J, Brunzell J, Hayden M
J Clin Invest. 1993; 91(5):1953-8.
PMID: 8486765
PMC: 288190.
DOI: 10.1172/JCI116414.
Syvanen A, Sajantila A, Lukka M
Am J Hum Genet. 1993; 52(1):46-59.
PMID: 8434605
PMC: 1682118.
Wood S
J Med Genet. 1988; 25(11):721-31.
PMID: 3070042
PMC: 1051574.
DOI: 10.1136/jmg.25.11.721.
Nucleotide sequence of PvuII polymorphic site at the human lipoprotein lipase gene locus.
Oka K, Tkalcevic G, Stocks J, Galton D, Brown W
Nucleic Acids Res. 1989; 17(16):6752.
PMID: 2571120
PMC: 318390.
DOI: 10.1093/nar/17.16.6752.
A major insertion accounts for a significant proportion of mutations underlying human lipoprotein lipase deficiency.
Langlois S, Deeb S, Brunzell J, Kastelein J, Hayden M
Proc Natl Acad Sci U S A. 1989; 86(3):948-52.
PMID: 2536938
PMC: 286596.
DOI: 10.1073/pnas.86.3.948.
PCR assay for a polymorphic PvuII site in the LPL gene.
Johnson J, Nishina P, Naggert J
Nucleic Acids Res. 1990; 18(24):7469.
PMID: 1979679
PMC: 332908.
DOI: 10.1093/nar/18.24.7469.
A missense mutation at codon 188 of the human lipoprotein lipase gene is a frequent cause of lipoprotein lipase deficiency in persons of different ancestries.
Monsalve M, Henderson H, Roederer G, Julien P, Deeb S, Kastelein J
J Clin Invest. 1990; 86(3):728-34.
PMID: 1975597
PMC: 296787.
DOI: 10.1172/JCI114769.
Coexistence of abnormalities of hepatic lipase and lipoprotein lipase in a large family.
Auwerx J, Babirak S, Hokanson J, Stahnke G, Will H, Deeb S
Am J Hum Genet. 1990; 46(3):470-7.
PMID: 1968704
PMC: 1683625.
Heterogeneous mutations in the human lipoprotein lipase gene in patients with familial lipoprotein lipase deficiency.
Gotoda T, Yamada N, Kawamura M, Kozaki K, Mori N, Ishibashi S
J Clin Invest. 1991; 88(6):1856-64.
PMID: 1752947
PMC: 295753.
DOI: 10.1172/JCI115507.
Amino acid substitution (Ile194----Thr) in exon 5 of the lipoprotein lipase gene causes lipoprotein lipase deficiency in three unrelated probands. Support for a multicentric origin.
Henderson H, Ma Y, Hassan M, Monsalve M, Marais A, Winkler F
J Clin Invest. 1991; 87(6):2005-11.
PMID: 1674945
PMC: 296955.
DOI: 10.1172/JCI115229.
DNA polymorphism haplotypes of the human lipoprotein lipase gene: possible association with high density lipoprotein levels.
Heizmann C, Kirchgessner T, Kwiterovich P, Ladias J, Derby C, Antonarakis S
Hum Genet. 1991; 86(6):578-84.
PMID: 1673959
DOI: 10.1007/BF00201544.
The lipoprotein lipase Gly188----Glu mutation in South Africans of Indian descent: evidence suggesting common origins and an increased frequency.
Henderson H, Hassan F, Berger G, Hayden M
J Med Genet. 1992; 29(2):119-22.
PMID: 1351946
PMC: 1015851.
DOI: 10.1136/jmg.29.2.119.
