Published in Am J Hum Genet on September 01, 1969
Study of four new kindreds with inherited thyroxine-binding globulin abnormalities. Possible mutations of a single gene locus. J Clin Invest (1972) 1.64
E1k, another quantitative variant at cholinesterase locus 1. J Med Genet (1978) 1.33
New allele at cholinesterase locus 1. J Med Genet (1976) 1.20
E1j, a quantitative variant at cholinesterase locus 1: immunological evidence. J Med Genet (1976) 1.14
Recessive dystrophic epidermolysis bullosa: evidence for an altered collagenase in fibroblast cultures. Proc Natl Acad Sci U S A (1977) 1.07
Recessive dystrophic epidermolysis bullosa. Evidence for increased collagenase as a genetic characteristic in cell culture. J Exp Med (1978) 1.03
Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis. Proc Natl Acad Sci U S A (1973) 1.03
Human skin collagenase in recessive dystrophic epidermolysis bullosa. Purification of a mutant enzyme from fibroblast cultures. J Clin Invest (1982) 0.94
Enhanced biosynthesis of human skin collagenase in fibroblast cultures from recessive dystrophic epidermolysis bullosa. J Clin Invest (1980) 0.87
Suxamethonium-the development of a modern drug from 1906 to the present day. Med Hist (1982) 0.87
High dihydrofolate reductase levels in Diplococcus pneumoniae after mutation in the structural gene: biochemical and immunological evidence for increased synthesis. J Bacteriol (1971) 0.81
Fabry's disease: the search for a regulator gene mutation in man. Am J Hum Genet (1972) 0.78
Cholinesterase Newfoundland: a new succinylcholine-sensitive variant of cholinesterase at locus 1. Am J Hum Genet (1981) 0.75
Naturally Occurring Genetic Variants of Human Acetylcholinesterase and Butyrylcholinesterase and Their Potential Impact on the Risk of Toxicity from Cholinesterase Inhibitors. Chem Res Toxicol (2016) 0.75
A new high activity plasma cholinesterase variant. J Med Genet (1988) 0.75
A method for determining the sedimentation behavior of enzymes: application to protein mixtures. J Biol Chem (1961) 59.20
Starch gel electrophoresis in a discontinous system of buffers. Nature (1957) 19.23
Differential inhibition of human serum cholinesterase with fluoride: recognition of two new phenotypes. Nature (1961) 3.36
On distribution and inheritance of atypical forms of human serum cholinesterase, as indicated by dibucaine numbers. Can J Biochem Physiol (1957) 3.34
A comparison of optical and manometric methods for the assay of human serum cholinesterase. Can J Biochem Physiol (1955) 2.88
A 'silent' pseudo-cholinesterase gene. Nature (1962) 2.69
Genetical studies on a new variant of serum cholinesterase detected by electrophoresis. Ann Hum Genet (1963) 2.49
ACUTE INTERMITTENT PORPHYRIA: THE FIRST "OVERPRODUCTION DISEASE" LOCALIZED TO A SPECIFIC ENZYME. Proc Natl Acad Sci U S A (1965) 2.34
Some statistical data on atypical cholinesterase of human serum. Ann Hum Genet (1959) 2.15
The active site of esterases. J Cell Comp Physiol (1959) 1.67
Increased plasma cholinesterase activity and succinylcholine resistance: a genetic variant. J Clin Invest (1966) 1.47
COMPLETE PSEUDOCHOLINESTERASE DEFICIENCY: GENETIC AND IMMUNOLOGIC CHARACTERIZATION. J Clin Invest (1965) 1.43
EVIDENCE FOR NON-ALLELISM BETWEEN GENES AFFECTING HUMAN SERUM CHOLINESTERASE. Nature (1963) 1.38
Molecular size and starch-gel electrophoresis. Arch Biochem Biophys (1962) 1.11
GENETIC MODIFICATION OF THE STRUCTURE AND AMOUNT OF DIHYDROFOLATE REDUCTASE IN AMETHOPTERIN-RESISTANT DIPLOCOCCUS PNEUMONIAE. J Biol Chem (1964) 1.08
On the problem of a "silent gene" in pseudocholinesterase polymorphism. Biochim Biophys Acta (1965) 1.07
[Isolation and physico-chemical characterization of cholinesterase in human serum]. Blut (1966) 1.06
A new structural variant of glucose-6-phosphate dehydrogenase with a high production rate (G6PD Hektoen). J Lab Clin Med (1969) 0.91
FRACTIONATION OF HUMAN SERUM CHOLINESTERASE COMPONENTS BY GEL FILTRATION. Biochim Biophys Acta (1963) 0.89
Haemoglobin J-Bangkok: a clinical, haematological and genetical study. Br J Haematol (1967) 0.87
Hemoglobin Hijiyama: a new fast-moving hemoglobin in a Japanese family. Science (1968) 0.83
HEMOGLOBIN HIKARI (ALPHA-2A-BETA-2-61ASPNH2): A FAST-MOVING HEMOGLOBIN FOUND IN TWO UNRELATED JAPANESE FAMILIES. Clin Chim Acta (1964) 0.81
[The fraction C5 of serum cholinesterase. Experimental studies on the microtechnics of gel electrophoresis]. Dtsch Z Gesamte Gerichtl Med (1968) 0.80
A model for protein biosynthesis predicated on the concept of metastable states: a postulated role for genetic code degeneracy. Proc Natl Acad Sci U S A (1968) 0.80
A quantitative assessment of plasma homocysteine as a risk factor for vascular disease. Probable benefits of increasing folic acid intakes. JAMA (1995) 11.45
Werner's syndrome a review of its symptomatology, natural history, pathologic features, genetics and relationship to the natural aging process. Medicine (Baltimore) (1966) 6.15
Hyperlipidemia in coronary heart disease. II. Genetic analysis of lipid levels in 176 families and delineation of a new inherited disorder, combined hyperlipidemia. J Clin Invest (1973) 5.87
Surgical strategy for spinal metastases. Spine (Phila Pa 1976) (2001) 5.81
Familial multifocal fibrosclerosis. Findings suggesting that retroperitoneal fibrosis, mediastinal fibrosis, sclerosing cholangitis, Riedel's thyroiditis, and pseudotumor of the orbit may be different manifestations of a single disease. Ann Intern Med (1967) 4.00
Sequence of the promoter region of the gene for human X-linked 3-phosphoglycerate kinase. Gene (1984) 3.67
An atypical variant of Fabry's disease in men with left ventricular hypertrophy. N Engl J Med (1995) 3.42
Molecular abnormality of an inactive aldehyde dehydrogenase variant commonly found in Orientals. Proc Natl Acad Sci U S A (1984) 3.22
Phosphoglycerate kinase: an X-linked polymorphism in man. Am J Hum Genet (1971) 3.05
Crystal structure of the RNA-dependent RNA polymerase of hepatitis C virus. Structure (1999) 3.04
The detection of linkage disequilibrium between closely linked markers: RFLPs at the AI-CIII apolipoprotein genes. Am J Hum Genet (1988) 2.85
Frequency of sickling disorders in U.S. blacks. N Engl J Med (1973) 2.74
Risk of developing a macular hole. Arch Ophthalmol (1990) 2.71
Hyperlipidemia in coronary heart disease. I. Lipid levels in 500 survivors of myocardial infarction. J Clin Invest (1973) 2.65
Linkage disequilibrium and evolutionary relationships of DNA variants (restriction enzyme fragment length polymorphisms) at the serum albumin locus. Proc Natl Acad Sci U S A (1984) 2.64
Linkage studies in a large kindred with familial hypercholesterolemia. Am J Hum Genet (1974) 2.49
Clonal origin of chronic myelocytic leukemia in man. Proc Natl Acad Sci U S A (1967) 2.48
Fractures of the coracoid process. J Bone Joint Surg Br (1997) 2.45
Hazards of indiscriminate screening for sickling. N Engl J Med (1971) 2.38
Submucosal endoscopic tumor resection for subepithelial tumors in the esophagus and cardia. Endoscopy (2012) 2.32
Glucose 6-phosphate dehydrogenase of human erythrocytes. I. Purification and characterization of normal (B+) enzyme. J Biol Chem (1966) 2.32
Pulsatile ocular blood flow study: decreases in exudative age related macular degeneration. Br J Ophthalmol (2001) 2.30
Public health and long-term genetic implications of intrauterine diagnosis and selective abortion. Birth Defects Orig Artic Ser (1971) 2.28
Quantitative immunohistochemical determination of 8-hydroxy-2'-deoxyguanosine by a monoclonal antibody N45.1: its application to ferric nitrilotriacetate-induced renal carcinogenesis model. Lab Invest (1997) 2.25
The cytopathic action of purified staphylococcal delta-hemolysin. Br J Exp Pathol (1967) 2.12
Association between angiotensin II receptor gene polymorphism and serum angiotensin converting enzyme (SACE) activity in patients with sarcoidosis. Thorax (1998) 2.04
Molecular abnormality of human alpha1-antitrypsin variant (Pi-ZZ) associated with plasma activity deficiency. Proc Natl Acad Sci U S A (1976) 2.00
Familial hypercholesterolemia in a large indred. Evidence for a monogenic mechanism. Ann Intern Med (1972) 1.90
Molecular genetics of human serum albumin: restriction enzyme fragment length polymorphisms and analbuminemia. Proc Natl Acad Sci U S A (1983) 1.89
Alteration of choroidal circulation in the foveal region in patients with type 2 diabetes. Br J Ophthalmol (2004) 1.83
Course of vitreomacular traction syndrome. Am J Ophthalmol (1995) 1.80
Mouse liver metallothioneins. Complete amino acid sequence of metallothionein-I. J Biol Chem (1977) 1.79
Randomized phase 2b trial of tofacitinib (CP-690,550) in de novo kidney transplant patients: efficacy, renal function and safety at 1 year. Am J Transplant (2012) 1.79
Cardiovascular disease mortality in familial forms of hypertriglyceridemia: A 20-year prospective study. Circulation (2000) 1.76
A partial cDNA clone for human apolipoprotein B. Proc Natl Acad Sci U S A (1985) 1.76
Cloning of cDNAs for human aldehyde dehydrogenases 1 and 2. Proc Natl Acad Sci U S A (1985) 1.75
Molecular cloning of a full-length cDNA for human alcohol dehydrogenase. Proc Natl Acad Sci U S A (1985) 1.74
Hereditary hemochromatosis: gene discovery and its implications for population-based screening. JAMA (1998) 1.73
Initial presentation with stage IV colorectal cancer: how aggressive should we be? Arch Surg (2000) 1.73
Mortality, major cause of moribundity, and spontaneous tumors in CD-1 mice. Toxicol Pathol (1988) 1.73
Population genetic studies in the Congo. I. Glucose-6-phosphate dehydrogenase deficiency, hemoglobin S, and malaria. Am J Hum Genet (1966) 1.72
An optical spectrum of the afterglow of a gamma-ray burst at a redshift of z = 6.295. Nature (2006) 1.70
Selective toxicity of MKT-077 to cancer cells is mediated by its binding to the hsp70 family protein mot-2 and reactivation of p53 function. Cancer Res (2000) 1.70
Three metal ions at the active site of the Tetrahymena group I ribozyme. Proc Natl Acad Sci U S A (1999) 1.69
Negro variant of glucose-6-phosphate dehydrogenase deficiency (A-) in man. Science (1967) 1.68
Jewish diseases and origins. Nat Genet (1995) 1.65
Features of abnormal choroidal circulation in central serous chorioretinopathy. Br J Ophthalmol (2003) 1.64
Hyperlipidemia in coronary heart disease. 3. Evaluation of lipoprotein phenotypes of 156 genetically defined survivors of myocardial infarction. J Clin Invest (1973) 1.64
Isolation and characterization of aldehyde dehydrogenase isozymes from usual and atypical human livers. J Biol Chem (1983) 1.61
Donor-transmitted malignancies in organ transplantation: assessment of clinical risk. Am J Transplant (2011) 1.59
Brave new world? Science (1974) 1.56
Screening for genetic diseases. N Engl J Med (1997) 1.55
A factor binding to the xenobiotic responsive element (XRE) of P-4501A1 gene consists of at least two helix-loop-helix proteins, Ah receptor and Arnt. J Biol Chem (1993) 1.54
Prevalence of dry eye in Japanese eye centers. Graefes Arch Clin Exp Ophthalmol (1995) 1.54
Human glucose-6-phosphate dehydrogenase: primary structure and cDNA cloning. Proc Natl Acad Sci U S A (1986) 1.50
Interleukin 8 (IL-8) selectively inhibits immunoglobulin E production induced by IL-4 in human B cells. J Exp Med (1992) 1.50
Non-invasive detection of endothelial dysfunction with 30 MHz transducer. Lancet (1996) 1.50
Amino acid substitution (histidine to tyrosine) in a glucose-6-phosphate dehydrogenase variant (G6PD Hektoen) associated with over-production. J Mol Biol (1970) 1.49
A novel mutation causing complete deficiency of thyroxine binding globulin. Clin Endocrinol (Oxf) (1997) 1.48
Germline and mosaic mutations of FLN1 in men with periventricular heterotopia. Neurology (2004) 1.47
Nonrandom patterns of codon usage and of nucleotide substitutions in human alpha- and beta-globin genes: an evolutionary strategy reducing the rate of mutations with drastic effects? Proc Natl Acad Sci U S A (1981) 1.45
Studies on human beta-D-N-acetylhexosaminidases. I. Purification and properties. J Biol Chem (1974) 1.44
Initiation of rabbit hemoglobin synthesis: methionine and formylmethionine at the N-terminal. Proc Natl Acad Sci U S A (1970) 1.44
The influence of induction therapy on graft and patient survival in patients with and without hepatitis C after liver transplantation. Am J Transplant (2009) 1.44
Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27. Am J Hum Genet (1987) 1.43
Quantitative detection of volatile sulfur compound- producing microorganisms in oral specimens using real-time PCR. Oral Dis (2005) 1.43
Inactivation of tumor suppressor p53 by mot-2, a hsp70 family member. J Biol Chem (1998) 1.43
Type 3 GM1 gangliosidosis: clinical and neuroradiological findings in an 11-year-old girl. J Neurol (1995) 1.42
Spectrophotometric assays for the enzymatic hydrolysis of the active metabolites of chlorpyrifos and parathion by plasma paraoxonase/arylesterase. Anal Biochem (1989) 1.42
Exon/intron structure of aldehyde dehydrogenase genes supports the "introns-late" theory. Proc Natl Acad Sci U S A (1997) 1.42
Population genetic studies in the Congo. 3. Blood groups (ABO, MNSs, Rh, Jsa). Am J Hum Genet (1966) 1.40
Studies on human beta-D-N-acetylhexosaminidases. II. Kinetic and structural properties. J Biol Chem (1974) 1.39
Throwing fracture of the humeral shaft. An analysis of 90 patients. Am J Sports Med (1998) 1.38
Role of genetic polymorphism of human plasma paraoxonase/arylesterase in hydrolysis of the insecticide metabolites chlorpyrifos oxon and paraoxon. Am J Hum Genet (1988) 1.38
Neutrophil dysfunction, chronic granulomatous disease, and non-spherocytic haemolytic anaemia caused by complete deficiency of glucose-6-phosphate dehydrogenase. Lancet (1973) 1.38
Aberrant muscle anterior to the shoulder joint: its clinical relevance. J Shoulder Elbow Surg (1999) 1.38
Basic imaging properties of a new screen-film system for chest radiography. Med Phys (1996) 1.38
Nutritional ecogenetics: homocysteine-related arteriosclerotic vascular disease, neural tube defects, and folic acid. Am J Hum Genet (1996) 1.37
Structural mutation in a major human aldehyde dehydrogenase gene results in loss of enzyme activity. Am J Hum Genet (1982) 1.37
The advent of the "unpatients'. Nat Med (1996) 1.36
Trichostatin A, a histone deacetylase inhibitor, suppresses synovial inflammation and subsequent cartilage destruction in a collagen antibody-induced arthritis mouse model. Osteoarthritis Cartilage (2008) 1.35
Retinal circulatory changes after scleral buckling procedures. Am J Ophthalmol (1983) 1.34
Genetics of hyperlipidemia in coronary heart disease. Trans Assoc Am Physicians (1972) 1.34
Genotype-phenotype relationships in human red/green color-vision defects: molecular and psychophysical studies. Am J Hum Genet (1992) 1.34
Biochemical evidence that secretor gene, Se, is a structural gene encoding a specific fucosyltransferase. Proc Natl Acad Sci U S A (1984) 1.33
Analbuminemia in an American Indian girl. Clin Genet (1976) 1.33
Serum paraoxonase and its influence on paraoxon and chlorpyrifos-oxon toxicity in rats. Toxicol Appl Pharmacol (1990) 1.32
Retinal blood flow alterations associated with scleral buckling and encircling procedures. Br J Ophthalmol (1992) 1.32
Swelling-activated and isoprenaline-activated chloride currents in guinea pig cardiac myocytes have distinct electrophysiology and pharmacology. J Gen Physiol (1994) 1.31
Oral health and mortality risk from pneumonia in the elderly. J Dent Res (2008) 1.31
Hereditary dysplasia of bone with kyphoscoliosis, contractures, and abnormally shaped ears. J Pediatr (1968) 1.30
Molecular patterns of X chromosome-linked color vision genes among 134 men of European ancestry. Proc Natl Acad Sci U S A (1989) 1.30
Nutritional and hormonal factors control the gene expression of FoxOs, the mammalian homologues of DAF-16. J Mol Endocrinol (2003) 1.30
Hemolytic anemia and G6PD deficiency. Science (1973) 1.28
Pleiotropic genetic effects on LDL size, plasma triglyceride, and HDL cholesterol in families. Arterioscler Thromb Vasc Biol (1999) 1.27
Plasma paraoxonase polymorphism: a new enzyme assay, population, family, biochemical, and linkage studies. Am J Hum Genet (1983) 1.27
A single nucleotide base transition is the basis of the common human glucose-6-phosphate dehydrogenase variant A (+). Genomics (1987) 1.27
Enzymatic and structural differences between usual and atypical human liver alcohol dehydrogenases. J Biol Chem (1981) 1.27
Studies on the oligosaccharide chains of human alpha 1-protease inhibitor. II. Structure of oligosaccharides. J Biol Chem (1980) 1.26