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Expansion of GAA triplet repeats in the human genome: unique origin of the FRDA mutation at the center of an Alu

โœ Scribed by Rhonda M Clark; Gillian L Dalgliesh; Dan Endres; Mariluz Gomez; Jim Taylor; Sanjay I Bidichandani


Book ID
116981179
Publisher
Elsevier Science
Year
2004
Tongue
English
Weight
579 KB
Volume
83
Category
Article
ISSN
0888-7543

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Triplet repeat disease is a group of hereditary neurodegenerative disorders caused by expansion of trinucleotide repeats such as CAG/CTG, CGG/CCG, and GAA/TTC. Direct detection of the expansion in the patient's genome shortcuts the tedious process needed for identification of disease genes by conven