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A Dual-Mode Single-Molecule Fluorescence Assay for the Detection of Expanded CGG Repeats in Fragile X Syndrome

✍ Scribed by Brian Cannon, Cynthia Pan, Liangjing Chen, Andrew G. Hadd, Rick Russell

Book ID: 118821857
Publisher: Humana Press Inc
Year: 2012
Tongue: English
Weight: 550 KB
Volume: 53
Category: Article
ISSN: 1073-6085
DOI: 10.1007/s12033-012-9505-z

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Fragile X syndrome is the most common monogenic cause of mental retardation in boys. It is always characterized clinically by moderate mental retardation and often by a long face with large everted ears and macro-orchidism. The causal mutation is an expansion of a CGG triplet repeat in a 5 exon of t