Article
Expression of the two alternatively spliced PRKAR1A RNAs in human endocrine glands.
Molecular and cellular endocrinology - 30 Jun 2005
Peverelli Erika, Mantovani Giovanna, Bondioni Sara, Pellegrini Caterina, Bosari Silvano, Lania Andrea G, Beck-Peccoz Paolo, Spada Anna
Abstract excerpt
Heterozygous loss of function mutations in human PKAR1A gene (PRKAR1A) have been identified in patients with Carney complex (CNC), an autosomal dominant familial multiple neoplasia syndrome displaying different endocrine tumors, including adrenocortical tumors, GH-secreting pituitary tumors and thyroid adenomas. Although PRKAR1A is encoded by a single gene, it is transcribed from at least two different promoters,...
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