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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Eur J Endocrinol
Autors principals: 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
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars