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Mutations and polymorphisms in the gene encoding regulatory subunit type 1-alpha of protein kinase A (PRKAR1A): an update.

Human mutation - 1 Apr 2010

Horvath Anélia, Bertherat Jérôme, Groussin Lionel, Guillaud-Bataille Marine, Tsang Kitman, Cazabat Laure, Libé Rosella, Remmers Elaine, René-Corail Fernande, Faucz Fabio Rueda, Clauser Eric, Calender Alain, Bertagna Xavier, Carney J Aidan, Stratakis Constantine A

Abstract excerpt

PRKAR1A encodes the regulatory subunit type 1-alpha (RIalpha) of the cyclic adenosine monophosphate (cAMP)-dependent protein kinase (PKA). Inactivating PRKAR1A mutations are known to be responsible for the multiple neoplasia and lentiginosis syndrome Carney complex (CNC). To date, at least 117 pathogenic variants in PRKAR1A have been identified (online database: http://prkar1a.nichd.nih.gov). The majority are...

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PMID: 20358582
DOI: 10.1002/humu.21178
PMCID: PMC2936101

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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