Article
Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion.
European journal of endocrinology - 1 Jan 2014
Bataille M Guillaud, Rhayem Y, Sousa S B, Libé R, Dambrun M, Chevalier C, Nigou M, Auzan C, North M O, Sa J, Gomes L, Salpea P, Horvath A, Stratakis C A, Hamzaoui N, Bertherat J, Clauser E
Abstract excerpt
BACKGROUND: Point mutations of the PRKAR1A gene are a genetic cause of Carney complex (CNC) and primary pigmented nodular adrenocortical disease (PPNAD), but in 30% of the patients no mutation is detected. OBJECTIVE: Set up a routine-based technique for systematic detection of large deletions or duplications of this gene and functionally characterize these mutations. METHODS: Multiplex ligation-dependent probe...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.