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 ResearchConceptsWilson 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 ResearchConceptsOrder of markersChromosome 13 markersMultipoint linkage analysisDNA markersRecombination frequencyMaximum lod scoreLinkage analysisPolymorphic markersChromosome 13LOD scoreLociD13S10Esterase DAutosomal recessive disorderWNDCopper metabolismRecessive disorderWilson's diseaseCentimorgansMarkersMetabolismKindredsAn efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13.
Farrer L, Goodfellow P, Lamarche C, Franjkovic I, Myers S, White B, Holden J, Kidd J, Simpson N, Kidd K. An efficient strategy for gene mapping using multipoint linkage analysis: exclusion of the multiple endocrine neoplasia 2A (MEN2A) locus from chromosome 13. American Journal Of Human Genetics 1987, 40: 329-37. PMID: 2883889, PMCID: PMC1684085.Peer-Reviewed Original ResearchConceptsMarker lociGenetic mapChromosome 13Red cell enzyme markersMapping disease genesLarger genetic mapMultipoint analysisLinkage mapMultipoint linkage analysisGene mappingDNA markersDisease genesTwo-point analysisLinkage analysisLociMEN2A locusClose linkageEnzyme markersType 2AMultiple endocrine neoplasia type 2ACMorganGenesMarkersMultiple endocrine neoplasia 2AFamily