Systematic screening for PRKAR1A gene rearrangement in Carney complex: identification and functional characterization of a new in-frame deletion

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 dup...

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Detalhes bibliográficos
Publicado no:Eur J Endocrinol
Main Authors: 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
Formato: Artigo
Idioma:Inglês
Publicado em: 2013
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4733623/
https://ncbi.nlm.nih.gov/pubmed/24144965
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1530/EJE-13-0740
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