1996
The association between free fatty acid concentrations and triglyceride-rich lipoproteins in the post-prandial state is altered by a common deletion polymorphism of the apo B signal peptide
Byrne CD, Wareham NJ, Mistry PK, Phillips D, Martensz ND, Halsall D, Talmud PJ, Humphries SE, Hales CN. The association between free fatty acid concentrations and triglyceride-rich lipoproteins in the post-prandial state is altered by a common deletion polymorphism of the apo B signal peptide. Atherosclerosis 1996, 127: 35-42. PMID: 9006802, DOI: 10.1016/s0021-9150(96)05932-1.Peer-Reviewed Original ResearchMeSH KeywordsAgedApolipoproteins BBiological TransportChylomicronsDNAFatty Acids, NonesterifiedGene DeletionGenotypeHumansImmunoradiometric AssayLipoproteins, VLDLMaleMiddle AgedMyocardial IschemiaPolymerase Chain ReactionPolymorphism, GeneticPostprandial PeriodPrevalenceProtein Sorting SignalsReference ValuesTriglyceridesUltracentrifugationConceptsIschemic heart diseaseFat tolerance testApo B signal peptideFFA concentrationsTolerance testFree fatty acid responsesLower HDL-cholesterol concentrationsFree fatty acid concentrationsHDL cholesterol concentrationsTriglyceride-rich lipoprotein concentrationsHealthy Caucasian menApo B signal peptide genotypesTriglyceride-rich lipoproteinsPost-prandial stateYears of ageFatty acid responsesOnly significant determinantCaucasian manLipoprotein concentrationsFatty acid concentrationsHeart diseaseCholesterol concentrationsSignificant associationGenotype groupsCommon deletion polymorphism
1992
Genetic diagnosis of Gaucher's disease
Mistry PK, Smith SJ, Ali M, Cox T, Hatton C, McIntyre N. Genetic diagnosis of Gaucher's disease. The Lancet 1992, 339: 889-892. PMID: 1348297, DOI: 10.1016/0140-6736(92)90928-v.Peer-Reviewed Original ResearchConceptsWild-type alleleMolecular basisGene analysisPoint mutationsMutationsGaucher diseaseAshkenazi Jewish descentAmplification refractory mutation systemGlucocerebrosidase geneGenetic counsellingAllelesCommon mutationsGenetic diagnosisPolymerase chain reactionUnrelated patientsPseudogenesDiverse ethnic originsGlucocerebrosidaseGenesChain reactionMutation systemJewish descentPrimersRefractory mutation system