A novel splice site mutation of the PRKAR1A gene, C.440+5 G & gt;C, in a Chinese family with Carney complex

ConclusionIn conclusion, the c.440+5 G>C mutation is a new splice site mutation that has not been reported and has the potential to broaden the mutational spectrum ofPRKAR1A that is associated with CNC, which would facilitate genetic diagnosis and counseling for CNC.
Source: Journal of Endocrinological Investigation - Category: Endocrinology Source Type: research