1996
Three recognition events at the branch‐site adenine.
Query C, Strobel S, Sharp P. Three recognition events at the branch‐site adenine. The EMBO Journal 1996, 15: 1392-1402. PMID: 8635472, PMCID: PMC450044, DOI: 10.1002/j.1460-2075.1996.tb00481.x.Peer-Reviewed Original Research
1993
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
MacDonald M, Ambrose C, Duyao M, Myers R, Lin C, Srinidhi L, Barnes G, Taylor S, James M, Groot N, MacFarlane H, Jenkins B, Anderson M, Wexler N, Gusella J, Bates G, Baxendale S, Hummerich H, Kirby S, North M, Youngman S, Mott R, Zehetner G, Sedlacek Z, Poustka A, Frischauf A, Lehrach H, Buckler A, Church D, Doucette-Stamm L, O'Donovan M, Riba-Ramirez L, Shah M, Stanton V, Strobel S, Draths K, Wales J, Dervan P, Housman D, Altherr M, Shiang R, Thompson L, Fielder T, Wasmuth J, Tagle D, Valdes J, Elmer L, Allard M, Castilla L, Swaroop M, Blanchard K, Collins F, Snell R, Holloway T, Gillespie K, Datson N, Shaw D, Harper P. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993, 72: 971-983. PMID: 8458085, DOI: 10.1016/0092-8674(93)90585-e.Peer-Reviewed Original ResearchMeSH KeywordsAmino Acid SequenceBase SequenceChromosomes, Human, Pair 4Cloning, MolecularExonsGene ExpressionGenesHumansHuntington DiseaseMolecular Sequence DataMutationOligodeoxyribonucleotidesPedigreePolymerase Chain ReactionPolymorphism, GeneticRepetitive Sequences, Nucleic AcidRestriction MappingRNA, MessengerConceptsDisease genesTrinucleotide repeatsUnstable DNA segmentDisease chromosomesFragile X syndromeNew genesNovel genesSpino-bulbar muscular atrophyDNA segmentsHuntington's disease geneDominant phenotypeKD proteinGenesChromosomesLinkage disequilibriumHD chromosomesX syndromeHuntington's disease chromosomesRepeatsHaplotype analysisDisease familiesPolymorphic trinucleotide repeatHD mutationMyotonic dystrophyExons