Identification of novel polymorphisms in the nuclear protein genes and their relationship with human sperm protamine deficiency and severe male infertility

Identification of novel mutations in the

Identification of novel mutations in the human ornithine transcarbamylase (OTC) gene of Korean patients with OTC deficiency and transient expression of the mutant proteins in vitro

✍ Gu-Hwan Kim; Jin-Ho Choi; Hyung-Haon Lee; Sangwook Park; Sung-Su Kim; Han-Wook Y 📂 Article 📅 2006 🏛 John Wiley and Sons 🌐 English ⚖ 148 KB 👁 1 views

The urea cycle plays key roles to prevent the accumulation of toxic nitrogenous compound and synthesize arginine de novo. Ornithine transcarbamylase (OTC) deficiency is the most common inborn error of urea cycle, which is inherited in an X-linked manner. This study was undertaken to characterize mol