1986
DNA analysis for ornithine transcarbamylase deficiency
Rozen R, Fox J, Hack A, Fenton W, Horwich A, Rosenberg L. DNA analysis for ornithine transcarbamylase deficiency. Journal Of Inherited Metabolic Disease 1986, 9: 49-57. PMID: 2878115, DOI: 10.1007/bf01800858.Peer-Reviewed Original Research
1985
Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus.
de Martinville B, Kunkel L, Bruns G, Morlé F, Koenig M, Mandel J, Horwich A, Latt S, Gusella J, Housman D. Localization of DNA sequences in region Xp21 of the human X chromosome: search for molecular markers close to the Duchenne muscular dystrophy locus. American Journal Of Human Genetics 1985, 37: 235-49. PMID: 2984924, PMCID: PMC1684559.Peer-Reviewed Original ResearchConceptsX chromosomeHuman X chromosome short armSomatic cell hybrid linesMolecular markersShort armX chromosome short armHuman X chromosomeChromosome short armDNA sequence mapGene dosage studiesOrnithine transcarbamylase geneAbnormal X chromosomeDNA sequencesDNA fragmentsHybrid linesChromosomesSequence mapsMuscular dystrophyStructural rearrangementsHuman lymphoblastsBand Xp21Duchenne muscular dystrophyGenesLociXp21Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus
Rozen R, Fox J, Fenton W, Horwich A, Rosenberg L. Gene deletion and restriction fragment length polymorphisms at the human ornithine transcarbamylase locus. Nature 1985, 313: 815-817. PMID: 2983225, DOI: 10.1038/313815a0.Peer-Reviewed Original Research
1984
Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus
Lindgren V, de Martinville B, Horwich A, Rosenberg L, Francke U. Human Ornithine Transcarbamylase Locus Mapped to Band Xp21.1 Near the Duchenne Muscular Dystrophy Locus. Science 1984, 226: 698-700. PMID: 6494904, DOI: 10.1126/science.6494904.Peer-Reviewed Original ResearchConceptsMitochondrial enzyme ornithine transcarbamylaseHuman ornithine transcarbamylase geneSitu hybridization experimentsOrnithine transcarbamylase geneGene mapsX chromosomeHybridization experimentsDuchenne muscular dystrophy locusShort armGenesX chromosome abnormalitiesMuscular dystrophyCell linesOrnithine transcarbamylaseLociChromosome abnormalitiesCarrier detectionChromosomesDuchenne muscular dystrophyXp21.1DNATranscarbamylaseProbeDystrophyOrnithine transcarbamylase deficiency