Computational analysis on missense mutation of ornithine transcarbamylase (OTCase) enzyme / Ernie Zuraida Ali

• Main Author: Ali, Ernie Zuraida
• Format: Thesis
• Language: English
• Published: 2020
• Subjects: Biomedical engineering; Clinical pathology. Laboratory technique; Administration
• Online Access: https://ir.uitm.edu.my/id/eprint/32494/1/32494.pdf; https://ir.uitm.edu.my/id/eprint/32494/

Missense mutations occur close to the binding pocket of ornithine transcarbamylase (OTCase) enzyme associated with a severe form of ornithine transcarbamylase deficiency (OTCD), an X-linked disorder. These mutations affect the functions of OTCase enzyme in the body that can lead to acute clinical sy...