Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.

doi:10.1203/00006450-199511000-00002

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Reduced cyclic AMP production in fragile X syndrome: cytogenetic and molecular correlations.

Pediatric research - 1 Nov 1995

Berry-Kravis E, Hicar M, Ciurlionis R

Abstract excerpt

The cAMP cascade is an intracellular signal transduction system thought to be important for neuronal regulation and information storage. cAMP production is reduced in platelets from patients with fragile X syndrome. In the present study we assayed cAMP metabolism, Xq27.3 fragile site percentages, size of amplification mutation in fragile X mental retardation-1 gene (FMR-1), and FMR-1 mRNA levels in 21...

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