Methanol/acetone treatment helps the amplification of FMR1 CGG repeat fragment in dried blood spots from Guthrie cards
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference4 articles.
1. Prevalence of fragile X syndrome;Turner;Am J Med Genet,1996
2. The fragile X(q27) form of X-linked mental retardation: FUdR as an inducing agent for fra(X)(q27) expression in lymphocytes, fibroblasts, and amniocytes;Brookwell;Am J Med Genet,1982
3. Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome;Verkerk;Cell,1991
4. A rapid, nonradioactive screening test for fragile X mutation at FRAXA and FRAXE loci;Wang;J Med Genet,1995
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