1994
Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis
Schilsky M. Identification of the Wilson's disease gene: Clues for disease pathogenesis and the potential for molecular diagnosis. Hepatology 1994, 20: 529-533. PMID: 8045514, DOI: 10.1002/hep.1840200235.Peer-Reviewed Original ResearchConceptsYeast artificial chromosomesAmino acid homologyMenkes disease geneDisease genesCDNA clonesSingle marker intervalATPase geneArtificial chromosomesMarker intervalP-type ATPase familyCopper transportP-type ATPase genesWilson disease geneBinding regionsLinkage disequilibriumHeavy metal transportersATP-binding domainCandidate cDNA clonesGenetic mapping dataWD geneAutosomal recessive disorderOpen reading framePartial cDNA cloneMetal binding regionsHuman liver cDNA library
1992
Localization of the gene for MEN 2A.
Lichter J, Difilippantonio M, Wu J, Miller D, Ward D, Goodfellow P, Kidd K. Localization of the gene for MEN 2A. 1992, 40: 199-204. PMID: 1362405.Peer-Reviewed Original ResearchConceptsGene mapping techniquesYeast artificial chromosomesMapping panelPericentromeric regionArtificial chromosomesGenetic linkage studiesChromosome 10GenesSitu hybridizationLinkage studiesChromosomesMBMultiple endocrine neoplasia type 2A syndromeDNAHybridizationRegionConsistent orderSmall regionLocalizationFluorescenceMarkers
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