Published in N Engl J Med on December 28, 1978
Isolation and sequence of a human apolipoprotein CII cDNA clone and its use to isolate and map to human chromosome 19 the gene for apolipoprotein CII. Proc Natl Acad Sci U S A (1984) 1.91
DNA polymorphisms in and around the Apo-A1-CIII genes and genetic hyperlipidemias. Am J Hum Genet (1987) 1.61
A novel APOC2 gene mutation identified in a Chinese patient with severe hypertriglyceridemia and recurrent pancreatitis. Lipids Health Dis (2016) 1.38
Apolipoprotein C-II deficiency syndrome. Clinical features, lipoprotein characterization, lipase activity, and correction of hypertriglyceridemia after apolipoprotein C-II administration in two affected patients. J Clin Invest (1986) 1.28
Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease. J Clin Invest (1987) 1.13
A liver-enriched long non-coding RNA, lncLSTR, regulates systemic lipid metabolism in mice. Cell Metab (2015) 1.09
Overexpression of apolipoprotein CII causes hypertriglyceridemia in transgenic mice. J Clin Invest (1994) 1.08
Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein. Proc Natl Acad Sci U S A (1987) 1.07
Monogenic dyslipidemias: window on determinants of plasma lipoprotein metabolism. Am J Hum Genet (2001) 0.97
Diagnostic evaluation of acute pancreatitis in two patients with hypertriglyceridemia. World J Gastroenterol (2004) 0.87
Apoc2 loss-of-function zebrafish mutant as a genetic model of hyperlipidemia. Dis Model Mech (2015) 0.85
A deletion of one nucleotide results in functional deficiency of apolipoprotein CII (apo CII Toronto). J Med Genet (1988) 0.82
Demonstration of an abnormality of C apoprotein of very low density lipoprotein in patients with gout. Ann Rheum Dis (1985) 0.78
Multidimensional regulation of lipoprotein lipase: impact on biochemical and cardiovascular phenotypes. J Lipid Res (2016) 0.77
The patient as interface between genes and the environment. CMAJ (1992) 0.75
Deficient Cholesterol Esterification in Plasma of apoc2 Knockout Zebrafish and Familial Chylomicronemia Patients. PLoS One (2017) 0.75
Apo C-II deficiency type Bari. Eur J Epidemiol (1992) 0.75
The Wilson disease gene is a putative copper transporting P-type ATPase similar to the Menkes gene. Nat Genet (1993) 5.97
Sources of variance in 24-hour dietary recall data: implications for nutrition study design and interpretation. Am J Clin Nutr (1979) 3.84
The Wilson disease gene: spectrum of mutations and their consequences. Nat Genet (1995) 3.41
A comparison of similarity measures for use in 2-D-3-D medical image registration. IEEE Trans Med Imaging (1998) 3.30
Hypertriglyceridemia associated with deficiency of apolipoprotein C-II. N Engl J Med (1978) 2.92
Genes for immunoglobulin heavy chains and for alpha 1-antitrypsin are localized to specific regions of chromosome 14q. Nature (1982) 2.75
Source of variance in 24-hour dietary recall data: implications for nutrition study design and interpretation. Carbohydrate sources, vitamins, and minerals. Am J Clin Nutr (1983) 2.43
Restriction fragment length polymorphisms associated with immunoglobulin C gamma genes reveal linkage disequilibrium and genomic organization. Proc Natl Acad Sci U S A (1983) 2.23
Analysis of monosaccharides by gas-liquid chromatography of the O-methyl glycosides as trifluoroacetate derivatives. Application to glycoproteins and glycolipids. J Chromatogr (1972) 2.19
Association between human rhinovirus C and severity of acute asthma in children. Eur Respir J (2010) 2.15
Human microphthalmia associated with mutations in the retinal homeobox gene CHX10. Nat Genet (2000) 2.13
DNA restriction fragments associated with alpha 1-antitrypsin indicate a single origin for deficiency allele PI Z. Nature (1985) 2.03
Practical approach to determining costs and frequency of adverse drug events in a health care network. Am J Health Syst Pharm (2001) 1.98
Wilson disease and Menkes disease: new handles on heavy-metal transport. Trends Genet (1994) 1.78
An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. J Med Genet (1985) 1.76
Rheumatoid arthritis and alpha-1-antitrypsin. Lancet (1976) 1.75
Report of the committee on the genetic constitution of chromosomes 14 and 15. Cytogenet Cell Genet (1989) 1.74
Studies of male survivors of myocardial infarction. XII. Relation of serum lipids and lipoproteins to survival over a 10-year period. Can Med Assoc J (1970) 1.68
The Pi polymorphism: genetic, biochemical, and clinical aspects of human alpha 1-antitrypsin. Adv Hum Genet (1981) 1.67
Report of Nomenclature Meeting for alpha 1-antitrypsin, INSERM, Rouen/Bois-Guillaume-1978. Hum Genet (1980) 1.66
The lipid composition of adult rat brain synaptosomal plasma membranes. Biochim Biophys Acta (1972) 1.57
A genetic study of Wilson's disease: evidence for heterogeneity. Am J Hum Genet (1972) 1.55
Plasma lipids and lipoproteins and the prevalence of risk for coronary heart disease in Canadian adults. Canadian Heart Health Surveys Research Group. CMAJ (1992) 1.54
The LEC rat has a deletion in the copper transporting ATPase gene homologous to the Wilson disease gene. Nat Genet (1994) 1.52
The association of dyslipoproteinemia with corneal arcus and xanthelasma. The Lipid Research Clinics Program Prevalence Study. Circulation (1986) 1.50
Recommendations for locus-specific databases and their curation. Hum Mutat (2008) 1.49
Disruption of the neuronal PAS3 gene in a family affected with schizophrenia. J Med Genet (2003) 1.46
Lipoprotein abnormalities associated with a familial deficiency of hepatic lipase. Atherosclerosis (1982) 1.45
Hepatic lipase deficiency. Clinical, biochemical, and molecular genetic characteristics. Arterioscler Thromb (1993) 1.45
Physical linkage of a human immunoglobulin heavy chain variable region gene segment to diversity and joining region elements. Proc Natl Acad Sci U S A (1988) 1.44
A preliminary evaluation of the Gonozyme test. Sex Transm Dis (1984) 1.43
The toxic milk mouse is a murine model of Wilson disease. Hum Mol Genet (1996) 1.39
alpha 1-Antitrypsin Mmalton (Phe52-deleted) forms loop-sheet polymers in vivo. Evidence for the C sheet mechanism of polymerization. J Biol Chem (1995) 1.33
Report of the committee on the genetic constitution of chromosomes 13, 14, 15 amd 16. Cytogenet Cell Genet (1987) 1.32
The role of lipoprotein lipase in the metabolism of triglyceride-rich lipoproteins by macrophages. J Biol Chem (1983) 1.30
Consensus reports: implications for the management of hypercholesterolemia and for future research. CMAJ (1989) 1.29
Functional characterization of missense mutations in ATP7B: Wilson disease mutation or normal variant? Am J Hum Genet (1998) 1.29
Plasma lipids and lipoprotein reference values, and the prevalence of dyslipoproteinemia in Canadian adults. Canadian Heart Health Surveys Research Group. Can J Cardiol (1999) 1.28
Factors influencing serum ceruloplasmin levels in normal individuals. J Lab Clin Med (1966) 1.27
Cannula occlusion with use of insulin lispro and insulin infusion system. Diabetes Care (1998) 1.26
Protease inhibitors in patients with chronic obstructive pulmonary disease: the alpha-antitrypsin heterozygote controversy. Am Rev Respir Dis (1976) 1.24
Haplotype studies in Wilson disease. Am J Hum Genet (1994) 1.23
Impact of different blood lipid evaluation and treatment guidelines on the proportion of Canadians identified and treated for elevated blood cholesterol. Canadian Heart Health Surveys Research Group. Can J Cardiol (1999) 1.23
Severe hepatic Wilson's disease in preschool-aged children. J Pediatr (2000) 1.22
Expression, purification, and metal binding properties of the N-terminal domain from the wilson disease putative copper-transporting ATPase (ATP7B). J Biol Chem (1997) 1.22
Role of the copper-binding domain in the copper transport function of ATP7B, the P-type ATPase defective in Wilson disease. J Biol Chem (1999) 1.22
A hepatic lipase gene mutation associated with heritable lipolytic deficiency. J Clin Endocrinol Metab (1991) 1.21
The physical organization of the human immunoglobulin heavy chain gene complex. EMBO J (1990) 1.21
Copper-dependent trafficking of Wilson disease mutant ATP7B proteins. Hum Mol Genet (2000) 1.20
A systematic controlled study of pulmonary abnormalities in rheumatoid arthritis. J Rheumatol (1983) 1.19
Genetic variation of alpha 1-antitrypsin. Am J Hum Genet (1978) 1.19
Analysis of a break in chromosome 14 mapping to the region of the immunoglobulin heavy chain locus. Proc Natl Acad Sci U S A (1983) 1.18
Haplotype and mutation analysis in Japanese patients with Wilson disease. Am J Hum Genet (1997) 1.17
Coffee and serum-lipids in coronary heart-disease. Lancet (1966) 1.17
Methylation of the minimal promoter of an embryonic globin gene silences transcription in primary erythroid cells. Proc Natl Acad Sci U S A (1997) 1.16
Haplotypes and mutations in Wilson disease. Am J Hum Genet (1995) 1.16
Physical mapping of probes within 14q32, a subtelomeric region showing a high recombination frequency. Genomics (1990) 1.14
Apolipoprotein CIISt. Michael. Familial apolipoprotein CII deficiency associated with premature vascular disease. J Clin Invest (1987) 1.13
31P-n.m.r. studies on cerebral energy metabolism under conditions of hypoglycaemia and hypoxia in vitro. Biochem J (1983) 1.13
Attenuation of evoked field potentials from dentate granule cells by low glucose, pyruvate + malate, and sodium fluoride. Brain Res (1982) 1.12
Plasma lipoproteins in familial hepatic lipase deficiency. Arteriosclerosis (1990) 1.12
Prenatal diagnosis of alpha 1-antitrypsin deficiency by restriction fragment length polymorphisms, and comparison with oligonucleotide probe analysis. Lancet (1986) 1.11
New variants of alpha 1-antitrypsin: comparison of Pi typing techniques. Am J Hum Genet (1981) 1.11
Liver disease associated with alpha1-antitrypsin deficiency in childhood. J Pediatr (1976) 1.10
Inherited variants of alpha1-antitrypsin: a new allele PiN. Can J Genet Cytol (1974) 1.09
Structure of apolipoprotein C-IIToronto, a nonfunctional human apolipoprotein. Proc Natl Acad Sci U S A (1987) 1.07
Genetic polymorphism and recombination in the subtelomeric region of chromosome 14q. Genomics (1997) 1.07
Actions of L- and D-homocysteate in rat CNS: a correlation between low-affinity uptake and the time courses of excitation by microelectrophoretically applied L-glutamate analogues. J Neurochem (1977) 1.07
Prenatal diagnosis of alpha 1 antitrypsin deficiency and estimates of fetal risk for disease. J Med Genet (1987) 1.07
Adult rat brain synaptic vesicles. II. Lipid composition. Biochim Biophys Acta (1973) 1.06
Complete physical map of the human immunoglobulin heavy chain constant region gene complex. Proc Natl Acad Sci U S A (1989) 1.05
Isolation and partial characterization of apolipoprotein (a) from human lipoprotein (a). Biochem Cell Biol (1986) 1.05
Leucocyte esterase determination as a secondary procedure for urine screening. J Clin Pathol (1985) 1.05
Identification of coagulase-negative Staphylococci isolated from urinary tract infections. Am J Clin Pathol (1986) 1.05
A three-component deformation model for image-guided surgery. Med Image Anal (1998) 1.04
Nature of the familial influence on plasma lipid levels. Atherosclerosis (1979) 1.04
Studies of male survivors of myocardial infarction. 8. The electrocardiogram and ten-year survival. Am J Cardiol (1966) 1.04
High frequency of two mutations in codon 778 in exon 8 of the ATP7B gene in Taiwanese families with Wilson disease. J Med Genet (1996) 1.03
Analysis of genetic variation reveals human immunoglobulin VH-region gene organization. Am J Hum Genet (1988) 1.02
Allelic association and linkage studies in Wilson disease. Hum Mol Genet (1993) 1.02
Plasma lipoprotein levels and the prevalence of hyperlipoproteinemia in a Canadian working population. Can Med Assoc J (1980) 1.00
Physical mapping of four serpin genes: alpha 1-antitrypsin, alpha 1-antichymotrypsin, corticosteroid-binding globulin, and protein C inhibitor, within a 280-kb region on chromosome I4q32.1. Am J Hum Genet (1993) 1.00
Nonuniform linkage disequilibrium within a 1,500-kb region of the human immunoglobulin heavy-chain complex. Am J Hum Genet (1991) 1.00
Compound heterozygosity for mutant hepatic lipase in familial hepatic lipase deficiency. Biochem Biophys Res Commun (1991) 0.99
Letter: Defect in alpha1-antitrypsin deficiency. Lancet (1973) 0.99
Sulfated insulin in mild, moderate, severe and insulin-resistant diabetes mellitus. Diabetes (1966) 0.99
Misleading results from immunoassays of serum free thyroxine in the presence of rheumatoid factor. Clin Chem (1997) 0.99
Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin. Am Rev Respir Dis (1983) 0.99
Serum triglyceride: method of estimation and levels in normal humans. Can Med Assoc J (1966) 0.99
DNA markers for the diagnosis of Wilson disease. J Hepatol (1993) 0.98
Triglyceride structure of human milk fat. Can J Biochem (1969) 0.97
Genetic mapping of the copper toxicosis locus in Bedlington terriers to dog chromosome 10, in a region syntenic to human chromosome region 2p13-p16. Hum Mol Genet (1999) 0.97
A deletion map of the human immunoglobulin heavy chain variable region. J Exp Med (1991) 0.97
Risk for liver disease in adults with alpha 1-antitrypsin deficiency. Am J Med (1983) 0.97
Brain levels of NADH and NAD+ under hypoxic and hypoglycaemic conditions in vitro. J Neurochem (1988) 0.97
Leptin levels do not change acutely with food administration in normal or obese subjects, but are negatively correlated with pituitary-adrenal activity. Clin Endocrinol (Oxf) (1997) 0.96