Two different allelic mutations in the lecithin:cholesterol acyltransferase (LCAT) gene resulting in classic LCAT deficiency: LCAT (tyr83–>stop) and LCAT (tyr156–>asn).

References

Page 1

	Year	Citations
DNA sequencing with chain-terminating inhibitors Frederick Sanger, S. Nicklen, Alan Coulson Proceedings of the National Academy of Sciences DnaEngineeringDna AnalysisMolecular BiologyMolecular Genetics	1977	69.1K
Enzymatic Amplification of β-Globin Genomic Sequences and Restriction Site Analysis for Diagnosis of Sickle Cell Anemia Randall K. Saiki, Stephen J. Scharf, Fred Faloona, Science ImmunohematologyGenetic TestingGeneticsβ-Globin Genomic SequencesMolecular Biology	1985	9K
THE DISTRIBUTION AND CHEMICAL COMPOSITION OF ULTRACENTRIFUGALLY SEPARATED LIPOPROTEINS IN HUMAN SERUM Richard J. Havel, Howard A. Eder, Joseph H. Bragdon Journal of Clinical Investigation	1955	8.8K
The Metabolic Basis of Inherited Disease. Annals of Internal Medicine Metabolic SyndromeEnergy MetabolismDisease MechanismMetabolic DisorderGenetics	1988	7.8K
Site-directed mutagenesis by overlap extension using the polymerase chain reaction Steffan N. Ho, Henry D. Hunt, Robert M. Horton, Gene Natural SciencesGeneticsDirected EvolutionMolecular BiologyDna Replication	1989	7.5K
[21] Specific synthesis of DNA in vitro via a polymerase-catalyzed chain reaction Kary B. Mullis, Fred Faloona Methods in enzymology on CD-ROM/Methods in enzymology BiosynthesisNucleic Acid ChemistryBiochemistryNatural SciencesBiological Synthesis	1987	5.7K
[2] New M13 vectors for cloning Joachim Messing Methods in enzymology on CD-ROM/Methods in enzymology Molecular BiologyGenetic EngineeringGene VectorCloningGene Transfer	1983	5.4K
Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins J. Garnier, David J. Osguthorpe, Barry Robson Journal of Molecular Biology Structural BioinformaticsBiomolecular Structure PredictionProtein FoldingSecondary StructureMedicine	1978	4.6K
The Metabolic Basis of Inherited Disease Annals of Internal Medicine Metabolic SyndromeDisease MechanismMetabolic DisorderGeneticsInherited Metabolic Disease	1990	4K
A dye-buoyant-density method for the detection and isolation of closed circular duplex DNA: the closed circular DNA in HeLa cells. R. J. Radloff, William R. Bauer, Jerome Vinograd Proceedings of the National Academy of Sciences DnaEngineeringGeneticsDna AnalysisMolecular Biology	1967	1.3K

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