1988
Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease
Farrer L, Bonne-Tamir B, Frydman M, Magazanik A, Kidd K, Bowcock A, Cavalli-Sforza L. Predicting genotypes at loci for autosomal recessive disorders using linked genetic markers: application to Wilson's disease. Human Genetics 1988, 79: 109-117. PMID: 3164701, DOI: 10.1007/bf00280547.Peer-Reviewed Original ResearchMeSH KeywordsCeruloplasminChromosome MappingChromosomes, Human, Pair 13CopperFemaleGenes, RecessiveGenetic LinkageGenetic MarkersGenotypeHepatolenticular DegenerationHumansMalePedigreeProbabilityConceptsWilson disease locusDisease locusUnaffected individualsChromosome 13 markersWND locusMultipoint linkage analysisDisease familiesWilson disease familiesGenetic markersLinkage analysisChromosome 13Long armLociSources of variationAutosomal recessive disorderMore variationGenotypesCopper concentrationRecessive disorderNormal homozygotesWilson's diseaseFamilial componentMarkersCopper levelsSubsequent analysis
1987
Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13.
Bowcock A, Farrer L, Cavalli-Sforza L, Hebert J, Kidd K, Frydman M, Bonne-Tamir B. Mapping the Wilson disease locus to a cluster of linked polymorphic markers on chromosome 13. American Journal Of Human Genetics 1987, 41: 27-35. PMID: 3474893, PMCID: PMC1684171.Peer-Reviewed Original ResearchMeSH KeywordsChromosome MappingChromosomes, Human, Pair 13DNAFemaleGenetic LinkageGenetic MarkersHepatolenticular DegenerationHumansMalePedigreePolymorphism, GeneticConceptsOrder of markersChromosome 13 markersMultipoint linkage analysisDNA markersRecombination frequencyMaximum lod scoreLinkage analysisPolymorphic markersChromosome 13LOD scoreLociD13S10Esterase DAutosomal recessive disorderWNDCopper metabolismRecessive disorderWilson's diseaseCentimorgansMarkersMetabolismKindreds