Identification of novel mutations of the human N-acetylglutamate synthase gene and their functional investigation by expression studies
✍ Scribed by Eva Schmidt; Jean-Marc Nuoffer; Johannes Häberle; Silke Pauli; Nathalie Guffon; Christine Vianey-Saban; Bendicht Wermuth; Hans Georg Koch
- Book ID
- 116270354
- Publisher
- Elsevier Science
- Year
- 2005
- Tongue
- English
- Weight
- 113 KB
- Volume
- 1740
- Category
- Article
- ISSN
- 0925-4439
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
Thyroid peroxidase (TPO) is the key enzyme in the synthesis of thyroid hormones. Defects in the TPO gene are reported to be the cause of congenital hypothyroidism due to a Total Iodide Organification Defect (TIOD). This type of defect, where iodide taken up by the thyroid gland cannot be oxidized an
Fabry disease is an X-linked recessive inborn metabolic disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A (EC 3.2.1.22). The causative mutations are diverse, include both large rearrangements and single-base substitutions, and are dispersed throughout the 7 exons of the a
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