PAH and pulmonary arterial hypertension: In a very recent study on the identification of the PAH gene mutation spectrum, a total of 129 different PAH gene mutations including, IVS10–11G>A (c.1066-11G>A; 19.23%), p.R261Q (c.782G>A; 7.63%), p.P281L (c.842C>T; 6.24%), IVS2 + 5G>C (c.168 + 5G>C; 5.75%), p.R243* (c.727C>T; 3.59%), IVS9+5G>A (c.969 + 5G>A; 2.84%), p.R176* (c.526C>T; 2.42%), p.Lys363Nfs*37 (c.1089delG; 2.13%), IVS11 + 1G>C (c.1199 + 1G>C; 2.07%), and p.L48S (c.143 T>C; 2.04%) were detected.