Journal of the Neurological Sciences · 1996 · 27 citations · 23 references
Life SciencesGeneticsMolecular GeneticsGenomicsHuman GeneticsMedical GeneticsDna SequencingGenetic DisordersMendelian DisordersRare Disease GeneticsRare Disease GenomicsGenomic DisordersPhenotypic Trait VariationRepeat Expansion DisordersRepeat Expansion MutationsSimple Sequence Repeat AnalysisSimple Sequence RepeatsTrinucleotide Repeat Disorders
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CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1
Yoshiya Kawaguchi, Toshihiro Okamoto, Masafumi Taniwaki et al. · Nature Genetics · 1994 · 1.8K citations
Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type 1
Harry T. Orr, Ming‐Yi Chung, Sandro Banfi et al. · Nature Genetics · 1993 · 1.7K citations