Compound heterozygosity for the delta F508 and F508C cystic fibrosis transmembrane conductance regulator (CFTR) mutations in a patient with congenital bilateral aplasia of the vas deferens

一名患有先天性双侧输精管发育不全的患者，其囊性纤维化跨膜传导调节因子 (CFTR) 基因存在ΔF508和F508C突变的复合杂合性。