Mutation Study of Malaysian Patients with Ornithine Transcarbamylase Deficiency: Clinical, Molecular, and Bioinformatics Analyses of Two Novel Missense Mutations of the OTC Gene

Ornithine transcarbamylase deficiency (OTCD), an X-linked disorder that results from mutations in the OTC gene, causes hyperammonemia and leads to various clinical manifestations. Mutations occurring close to the catalytic site of OTCase can cause severe OTCD phenotypes compared with those caused by...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Biomed Res Int
Main Authors: Ali, Ernie Zuraida, Zakaria, Yuslina, Mohd Radzi, Mohd Amran, Ngu, Lock Hock, Jusoh, Siti Azma
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi 2018
Assuntos:
Research Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6098936/
https://ncbi.nlm.nih.gov/pubmed/30175132
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2018/4320831
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados