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Homogeneous assay based on 52 primer sets to scan for mutations of the ABCA1 gene and its application in genetic analysis of a new patient with familial high-density lipoprotein deficiency syndrome
BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE
Common variants in the gene encoding ATP-binding cassette transporter 1 inmen with low HDL cholesterol levels and coronary heart disease
ATHEROSCLEROSIS
Rapid quantification of human ABCA1 mRNA in various cell types and tissuesby real-time reverse transcription-PCR
CLINICAL CHEMISTRY
Pharmacogenomics: implications for laboratory medicine
CLINICA CHIMICA ACTA
Rapid detection of the two most common CLN2 mutations causing classical late infantile neuronal ceroid lipofuscinosis
CLINICAL CHEMISTRY
The gene encoding ATP-binding cassette transporter 1 is mutated in Tangierdisease
NATURE GENETICS
High-speed prothrombin G -> A 20210 and methylenetetrahydrofolate reductase C -> T 677 mutation detection using real-time fluorescence PCR and melting curves. (vol 27, pg 234, 1999)
BIOTECHNIQUES
High-speed prothrombin G -> A 20210 and methylenetetrahydrofolate reductase C -> T 677 mutation detection using real-time fluorescence PCR and melting curves
BIOTECHNIQUES
Transcription factors Sp1 and AP-2 mediate induction of acid sphingomyelinase during monocytic differentiation
JOURNAL OF LIPID RESEARCH
High-speed apolipoprotein E genotyping and apolipoprotein B3500 mutation detection using real-time fluorescence PCR and melting curves
CLINICAL CHEMISTRY
High-speed detection of the two common alpha(1)-antitrypsin deficiency alleles Pi*Z and Pi*S by real-time fluorescence PCR and melting curves
CLINICAL CHEMISTRY
DIFFERENT MISSENSE MUTATIONS IN HISTIDINE-108 OF LYSOSOMAL ACID LIPASE CAUSE CHOLESTERYL ESTER STORAGE DISEASE IN UNRELATED COMPOUND HETEROZYGOUS AND HEMIZYGOTIC INDIVIDUALS
Human mutation
TRANSCRIPTIONAL REGULATION OF LYSOSOMAL ACID LIPASE IN DIFFERENTIATING MONOCYTES IS MEDIATED BY TRANSCRIPTION FACTORS SP1 AND AP-2
Journal of lipid research
A NOVEL VARIANT OF LYSOSOMAL ACID LIPASE IN CHOLESTERYL ESTER STORAGEDISEASE-ASSOCIATED WITH MILD PHENOTYPE AND IMPROVEMENT ON LOVASTATIN
Journal of hepatology
STRUCTURAL ORGANIZATION AND CHARACTERIZATION OF THE PROMOTER REGION OF A HUMAN CARBOXYLESTERASE GENE
Biochimica et biophysica acta, N. Gene structure and expression
IDENTIFICATION OF DIFFERENTIATION AND ACTIVATION-DEPENDENT GENE CANDIDATES IN MONOCYTE MACROPHAGES/
Atherosclerosis
MODULATION OF LYSOSOMAL ACID LIPASE (LAL) BY DEFINED MUTATIONS (CESD,WD), REGULATORY ELEMENTS (SP1, AP2, NF-KAPPA-B) AND CELL-DIFFERENTIATION IN MONOCYTE MACROPHAGES/
Atherosclerosis
THE GENETIC-STRUCTURE OF LIPOPROTEIN-ASSOCIATED LPS-BINDING PROTEIN (LBP) IS RELATED TO THE PHOSPHOLIPID-(PLTP), CHOLESTERYL ESTER TRANSFERPROTEIN (CETP) AND BACTERICIDAL PERMEABILITY-INCREASING PROTEIN (BPI)GENES
Atherosclerosis
PSTI-POLYMORPHISM IN THE HUMAN BACTERICIDAL PERMEABILITY-INCREASING PROTEIN (BPI) GENE
Clinical genetics
THE GENOMIC ORGANIZATION OF THE GENES FOR HUMAN LIPOPOLYSACCHARIDE-BINDING PROTEIN (LBP) AND BACTERICIDAL PERMEABILITY-INCREASING PROTEIN (BPI) IS HIGHLY CONSERVED
Biochemical and biophysical research communications
IDENTIFICATION AND CHARACTERIZATION OF A NOVEL MONOCYTE MACROPHAGE DIFFERENTIATION-DEPENDENT GENE THAT IS RESPONSIVE TO LIPOPOLYSACCHARIDE,CERAMIDE, AND LYSOPHOSPHATIDYLCHOLINE/
Biochemical and biophysical research communications
MOLECULAR-CLONING AND CHARACTERIZATION OF A NOVEL PUTATIVE CARBOXYLESTERASE, PRESENT IN HUMAN INTESTINE AND LIVER
Biochemical and biophysical research communications
DIFFERENTIATION-DEPENDENT EXPRESSION OF A HUMAN CARBOXYLESTERASE IN MONOCYTIC CELLS AND TRANSCRIPTION FACTOR-BINDING TO THE PROMOTER
Biochemical and biophysical research communications
IMPORTANCE OF DEFINED MUTATIONS IN THE LAL GENE FOR THE MANIFESTATIONOF CESD AND WD AND CHARACTERIZATION OF THE LAL PROMOTER
Molecular biology of the cell
GENETIC AND BIOCHEMICAL-EVIDENCE THAT CESD AND WOLMAN-DISEASE ARE DISTINGUISHED BY RESIDUAL LYSOSOMAL ACID LIPASE ACTIVITY
Genomics
A NEW MUTATION IN THE GENE FOR LYSOSOMAL ACID LIPASE LEADS TO WOLMAN-DISEASE IN AN AFRICAN KINDRED
Journal of lipid research
ISOLATION AND CHARACTERIZATION OF A 14.5-KDA TRICHLOROACETIC-ACID-SOLUBLE TRANSLATIONAL INHIBITOR PROTEIN FROM HUMAN MONOCYTES THAT IS UP-REGULATED UPON CELLULAR-DIFFERENTIATION
European journal of biochemistry
MINIMAL LENGTH REQUIREMENT OF THE SINGLE-STRANDED TAILS FOR LIGATION-INDEPENDENT CLONING (LIC) OF PCR PRODUCTS
PCR methods and applications
PURIFICATION, CLONING, AND EXPRESSION OF A HUMAN ENZYME WITH ACYL-COENZYME-A - CHOLESTEROL ACYLTRANSFERASE ACTIVITY, WHICH IS IDENTICAL TO LIVER CARBOXYLESTERASE
Arteriosclerosis and thrombosis
TRINUCLEOTIDE AND TETRANUCLEOTIDE REPEAT POLYMORPHISM IN THE LIPA GENE
Human molecular genetics
GENOMIC ORGANIZATION OF THE HUMAN LYSOSOMAL ACID LIPASE GENE (LIPA)
Genomics
A SPLICE JUNCTION MUTATION CAUSES DELETION OF A 72-BASE EXON FROM THEMESSENGER-RNA FOR LYSOSOMAL ACID LIPASE IN A PATIENT WITH CHOLESTERYLESTER STORAGE DISEASE
The Journal of clinical investigation
DEFECTIVE SPLICING OF THE LYSOSOMAL ACID LIPASE-MESSENGER RNA IN A PATIENT WITH CHOLESTERYL ESTER STORAGE DISEASE
Circulation