Article
Haplotype analysis of the promoter region of phosphodiesterase type 8B (PDE8B) in correlation with inactivating PDE8B mutation and the serum thyroid-stimulating hormone levels.
Thyroid : official journal of the American Thyroid Association - 1 Apr 2010
Horvath Anelia, Faucz Fabio, Finkielstain Gabriela P, Nikita Maria Eleni, Rothenbuhler Anya, Almeida Madson, Mericq Veronica, Stratakis Constantine A
Abstract excerpt
BACKGROUND: Human phosphodiesterase (PDE) type 8B (PDE8B) is located at 5q14.1 and is known as the PDE with the highest affinity to cAMP. We recently described a family with bilateral micronodular adrenocortical disease that was apparently caused by an inactivating PDE8B mutation (H305P). As a result of a genome-wide study, a strong association between six polymorphic variants in the PDE8B promoter and serum...
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