Trinucleotide repeat polymorphism at the human transcription factor IID gene

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Dinucleotide repeat polymorphism at the human preproglucagon gene.

References: 1) Bell.G.I. etal. (1983) Nature 304, 368-371. 2) Weber.J.L. and May.P.E. (1989) Am. J. Hum. Genet. 44, 3 8 8 3 % . 3) Schroeder.W.T. et al. (1984) Cytogenet. Cell Genet. 38, 76-79. 4) Weber,J.L. etal. (1990) Nucl. Acids Res. 18, 4637. Source/Description: The polymorphic (TG)n repeat begins at base pair 3833 in intron D of the human interleukin 9 gene (IL-9) on chromosome 5 (1). The...

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A Common Trinucleotide Repeat Expansion within the Transcription Factor 4 (TCF4, E2-2) Gene Predicts Fuchs Corneal Dystrophy

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Transcription Factor IID Recruitment and Sp1 Activation

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Trinucleotide repeat expansion and human disease.

Eleven human loci, responsible for nine diseases, exhibit an unprecedented form of mutation: the expansion of trinucleotide repeats. Normally polymorphic CGG/CCG or CAG/CTG repeats (means of approximately 20 triplets) are found enlarged to either 2-3 or 10-1000 times normal lengths. The smaller expansions are found within genes coding for polyglutamine and are associated with neurodegenerative ...

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ژورنال

عنوان ژورنال: Nucleic Acids Research

سال: 1991

ISSN: 0305-1048,1362-4962

DOI: 10.1093/nar/19.15.4307