Mutations and polymorphisms in the gene
✍
Anélia Horvath; Jérôme Bertherat; Lionel Groussin; Marine Guillaud-Bataille; Kit
📂
Article
📅
2010
🏛
John Wiley and Sons
🌐
English
⚖ 310 KB
👁 1 views
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 patho