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- Title
A novel FMR1 PCR method for the routine detection of low abundance expanded alleles and full mutations in fragile X syndrome.
- Authors
Filipovic-Sadic, Stela; Sah, Sachin; Chen, Liangjing; Krosting, Julie; Sekinger, Edward; Zhang, Wenting; Hagerman, Paul J; Stenzel, Timothy T; Hadd, Andrew G; Latham, Gary J; Tassone, Flora
- Abstract
Fragile X syndrome (FXS) is a trinucleotide-repeat disease caused by the expansion of CGG sequences in the 5' untranslated region of the FMR1 (fragile X mental retardation 1) gene. Molecular diagnoses of FXS and other emerging FMR1 disorders typically rely on 2 tests, PCR and Southern blotting; however, performance or throughput limitations of these methods currently constrain routine testing.
- Publication
Clinical chemistry, 2010, Vol 56, Issue 3, p399
- ISSN
1530-8561
- Publication type
Journal Article
- DOI
10.1373/clinchem.2009.136101