Mutations and Polymorphisms in the Gene Encoding Regulatory Subunit Type 1-alpha of Protein Kinase A (PRKAR1A): An Update

PRKAR1A encodes the regulatory subunit type 1-alpha (RIα), of the main mediator of the cAMP effects in the eukaryotic cells – cAMP dependant Protein Kinase A (PKA). Inactivating PRKAR1A mutations are known to be responsible for the multiple neoplasia and lentiginosis syndrome Carney complex (CNC). T...

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Autori principali: Horvath, Anélia, Bertherat, Jérôme, Groussin, Lionel, Guillaud-Bataille, Marine, Tsang, Kitman, Cazabat, Laure, Libe, Rosella, Remmers, Elaine, René-Corail, Fernande, Faucz, Fabio Rueda, Clauser, Eric, Calender, Alain, Bertagna, Xavier, Carney, J Aidan, Stratakis, Constantine A.
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2010
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Article
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC2936101/
https://ncbi.nlm.nih.gov/pubmed/20358582
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21178
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