Publications:

N-acetylglutamate synthase deficiency: an insight into the genetics, epidemiology, pathophysiology, and treatment.

The Application Of Clinical Genetics

Ah Mew, Nicholas N; Caldovic, Ljubica L

Publication Date: 2011

Variant appearance in text: NAGS: E433S

PubMed Link: 23776373

Variant Present in the following documents:

• Main text
• tacg-4-127.pdf

View BVdb publication page

Mammalian N-acetylglutamate synthase.

Molecular Genetics And Metabolism

Morizono, Hiroki H; Caldovic, Ljubica L; Shi, Dashuang D; Tuchman, Mendel M

Publication Date: 2004-04

Variant appearance in text: NAGS: Glu433Ser

PubMed Link: 15050968

Variant Present in the following documents:

• Main text

View BVdb publication page