Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function-Reference-Cited by-同舟云学术

Understanding carbamoyl phosphate synthetase (CPS1) deficiency by using the recombinantly purified human enzyme: Effects of CPS1 mutations that concentrate in a central domain of unknown function

Published:2014-06 Issue:2 Volume:112 Page:123-132
ISSN:1096-7192
Container-title:Molecular Genetics and Metabolism
language:en
Short-container-title:Molecular Genetics and Metabolism

Author:

Díez-Fernández Carmen^ORCID,Hu Liyan,Cervera Javier^ORCID,Häberle Johannes,Rubio Vicente

Funder

Orphan Europe

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology,Biochemistry,Endocrinology, Diabetes and Metabolism

Reference57 articles.

1. Urea Cycle Enzymes;Brusilow,2001

2. Molecular defects in human carbamoyl phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations;Häberle;Hum. Mutat.,2011

3. Physical and linkage mapping of human carbamyl phosphate synthetase I (CPS1) and reassignment from 2p to 2q35;Summar;Cytogenet. Cell Genet.,1995

4. Gene structure of human carbamylphosphate synthetase 1 and novel mutations in patients with neonatal onset;Häberle;Hum. Mutat.,2003

5. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene;Summar;Gene,2003

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