Haplotype Analysis of the Promoter Region of Phosphodiesterase Type 8B (PDE8B) in Correlation with Inactivating PDE8B Mutation and the Serum Thyroid-Stimulating Hormone Levels

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 resul...

وصف كامل

محفوظ في:
التفاصيل البيبلوغرافية
المؤلفون الرئيسيون: Horvath, Anelia, Faucz, Fabio, Finkielstain, Gabriela P., Nikita, Maria Eleni, Rothenbuhler, Anya, Almeida, Madson, Mericq, Veronica, Stratakis, Constantine A.
التنسيق: Artigo
اللغة:Inglês
منشور في: Mary Ann Liebert, Inc. 2010
الموضوعات:
Original Studies, Reviews, and Scholarly Dialog
الوصول للمادة أونلاين:https://ncbi.nlm.nih.gov/pmc/articles/PMC2867554/
https://ncbi.nlm.nih.gov/pubmed/20373981
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1089/thy.2009.0260
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