Search Results - "Klasen, EC"
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1
Fraud in a pharmaceutical trial
Published in The Lancet (British edition) (18-11-2000)Get full text
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2
Apolipoprotein gene cluster on chromosome 19. Definite localization of the APOC2 gene and the polymorphic Hpa I site associated with type III hyperlipoproteinemia
Published in Human genetics (01-01-1988)“…Recently, using an APOE cDNA probe, we discovered an Hpa I restriction fragment length polymorphism (RFLP) that appeared to be strongly associated with the…”
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3
Genetic aspects of erythropoietic protoporphyria
Published in Annals of human genetics (01-05-1984)“…An exhaustive study of erythropoietic protoporphyria in the Netherlands led to the discovery of 200 patients with this disorder in 91 families. In 46 of these…”
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4
Cloning and characterization of an alpha 1-antitrypsin like gene 12 KB downstream of the genuine alpha 1-antitrypsin gene
Published in Biochemical and biophysical research communications (15-09-1988)“…Cosmid clones containing alpha 1-antitrypsin (alpha 1AT) gene sequences were observed to contain alpha 1AT-like sequences approximately 12 kb downstream of the…”
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5
alpha 1-antitrypsin phenotype and gene distribution in Southern Italy
Published in Human heredity (1981)“…Sera from 150 individuals from Southern Italy were screened for alpha 1-antitrypsin (alpha 1AT) types. The frequencies of the Pi alleles were compared with…”
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6
A Pro----Leu substitution in codon 369 of the alpha-1-antitrypsin deficiency variant PI MHeerlen
Published in Human genetics (01-02-1989)“…The molecular defect has been elucidated in the alpha-1-antitrypsin (PI) gene of a patient with a serum level of only 5 mg/100 ml and a PI M-like phenotype,…”
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7
The N-terminal sequence of antileukoprotease isolated from bronchial secretion
Published in Biochemical and biophysical research communications (16-04-1985)“…Antileukoprotease (ALP) was isolated from bronchial secretion. The amino acid composition as well as the N-terminal sequence were determined. No homology with…”
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8
The flaccid lung syndrome and alpha 1-protease inhibitor deficiency
Published in Chest (01-04-1988)“…We examined breathing mechanics and alpha 1PI deficiency in 1,850 unrelated male subjects with various lung complaints. The loss in lung elasticity appeared to…”
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9
Alpha 1-antitrypsin deficiency and PI typing in patients with chronic urticaria
Published in British journal of dermatology (1951) (01-04-1985)“…A group of 281 patients with chronic urticaria was classified into various subtypes and compared with 357 healthy controls for PI types of alpha1-antitrypsin…”
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10
Linkage studies in facioscapulohumeral muscular dystrophy
Published in Muscle & nerve (01-08-1988)“…Possible linkage between the locus for autosomal dominant facioscapulo-humeral muscular dystrophy and the locus for the constant region of the heavy chains of…”
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11
Alpha 1-antitrypsin deficiency and the flaccid lung syndrome. The heterozygote controversy
Published in Clinical genetics (01-03-1986)“…A significantly higher number of PI ZZ and PI MZ individuals was found in a flaccid lung population as compared to internal and healthy controls. The relative…”
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12
Use of N-(7-dimethylamino-4-methylcoumarinyl)maleinimide for the detection of cysteine-containing peptides in peptide maps
Published in Analytical biochemistry (01-04-1982)Get more information
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13
Characterization of a low molecular weight anti-elastase isolated from human bronchial secretion
Published in Experimental lung research (1985)“…An elastase-specific, low molecular weight inhibitor was isolated from human bronchial secretions that is able to inhibit porcine pancreatic elastase and human…”
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14
Population genetics of alpha1-antitrypsin in the Netherlands. Description of a new electrophoretic variant
Published in Human genetics (26-07-1977)“…Two groups of 708 healthy blood donors and 563 patients affected with chronic obstructive lung disease (C.O.L.D.) respectively, have been screened for…”
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15
Apolipoprotein E phenotype and gene distribution in The Netherlands
Published in Human heredity (1987)“…2,000 male individuals randomly selected from three different areas in The Netherlands were phenotyped for apolipoprotein E. The apolipoprotein E gene…”
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16
alpha 1-Antitrypsin-levels and phenotypes in Crohn's disease in the Netherlands
Published in Gut (01-10-1980)“…A group of 310 unrelated patients suffering from Crohn's disease has been screened for quantitative and electrophoretic variations of alpha 1-antitrypsin…”
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17
Different characteristics of ferrochelatase in cultured fibroblasts of erythropoietic protoporphyria patients and normal controls
Published in Biochimica et biophysica acta (06-07-1990)“…Ferrochelatase activity was measured in crude extracts of fibroblasts, obtained from erythropoietic protoporphyria patients and healthy controls. The enzyme…”
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18
Familial dysbetalipoproteinemic subjects with the E3/E2 phenotype exhibit an E2 isoform with only one cysteine residue
Published in Clinical genetics (01-11-1987)“…Most familial dysbetalipoproteinemic patients are E2/E2 homozygotes for the apolipoprotein E (apoE) polymorphism, whereas patients with the E4/E2 or E3/E2…”
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19
Clearance of alpha 1-antitrypsin isoelectric focusing patterns in blood samples treated with heparin
Published in Clinica chimica acta (16-07-1979)“…Plasma samples, whose typing for alpha 1-AT is made difficult or impossible because of an excess of heparin used as anticoagulant, can be treated very…”
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20
Detection of alpha-1-antitrypsin deficiency variants by synthetic oligonucleotide hybridization
Published in Clinica chimica acta (01-12-1987)“…Oligonucleotide probes, specific for the two most common deficiency variants, Z and S, of alpha-1-antitrypsin have been successfully applied for the diagnosis…”
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