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...

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Detalles Bibliográficos
Autores principales: Ali, Ernie Zuraida, Zakaria, Yuslina, Mohd Radzi, Mohd Amran, Ngu, Lock Hock, Jusoh, Siti Azma
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6098936/
https://www.ncbi.nlm.nih.gov/pubmed/30175132
http://dx.doi.org/10.1155/2018/4320831

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