A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1
Breschel T, McInnis M, Margolis R, Sirugo G, Corneliussen B, Simpson S, McMahon F, MacKinnon D, Xu J, Pleasant N, Huo Y, Ashworth R, Grundstrom C, Grundstrom T, Kidd K, DePaulo J, Ross C. A Novel, Heritable, Expanding CTG Repeat in an Intron of the SEF2-1 Gene on Chromosome 18q21.1. Human Molecular Genetics 1997, 6: 1855-1863. PMID: 9302263, DOI: 10.1093/hmg/6.11.1855.Peer-Reviewed Original ResearchMeSH KeywordsAllelesBase SequenceBasic Helix-Loop-Helix Leucine Zipper Transcription FactorsBipolar DisorderBlotting, SouthernCell LineChromosomes, Human, Pair 18Cloning, MolecularDNA-Binding ProteinsFemaleGene FrequencyHelix-Loop-Helix MotifsHumansIntronsMaleMolecular Sequence DataPedigreeSequence AnalysisTCF Transcription FactorsTrans-ActivatorsTranscription Factor 4Transcription Factor 7-Like 2 ProteinTranscription FactorsTrinucleotide RepeatsConceptsCEPH reference pedigreesSouthern blot analysisReference pedigreesUnstable alleleDNA binding proteinTriplet repeat mutationBlot analysisCTG repeatsTranscriptional regulationGenomic digestsHuman chromosomesKb cloneStable allelesCandidate genesAbnormal phenotypeBinding proteinRepeatsRepeat lociBipolar pedigreesGenesChromosome 18q21.1Repeat mutationsSomatic mutationsIntronsAllelesDetection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred
Sirugo G, Pakstis A, Kidd K, Matthysse S, Levy D, Holzman P, Párnas J, McInnis M, Breschel T, Ross C. Detection of a large CTG/CAG trinucleotide repeat expansion in a Danish schizophrenia kindred. American Journal Of Medical Genetics 1997, 74: 546-548. PMID: 9342210, DOI: 10.1002/(sici)1096-8628(19970919)74:5<546::aid-ajmg19>3.0.co;2-c.Peer-Reviewed Original ResearchAllelesChromosomes, Human, Pair 18DenmarkGenetic MarkersHumansPedigreeSchizophreniaTrinucleotide Repeats