Mutations and polymorphisms in the gene
β
AnΓ©lia Horvath; JΓ©rΓ΄me Bertherat; Lionel Groussin; Marine Guillaud-Bataille; Kit
π
Article
π
2010
π
John Wiley and Sons
π
English
β 310 KB
π 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