Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations-Reference-Cited by-同舟云学术

Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations

Published:2011-05-05 Issue:6 Volume:32 Page:579-589
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Hum. Mutat.

Author:

Häberle Johannes,Shchelochkov Oleg A.,Wang Jing,Katsonis Panagiotis,Hall Lynn,Reiss Sara,Eeds Angela,Willis Alecia,Yadav Meeta,Summar Samantha,Lichtarge Olivier,Rubio Vicente,Wong Lee-Jun,Summar Marshall,

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/humu.21406/fullpdf

Reference72 articles.

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3. Affinity cleavage of carbamoyl-phosphate synthetase I localizes regions of the enzyme interacting with the molecule of ATP that phosphorylates carbamate;Alonso;Eur J Biochem,1995

4. Novel mutations (H337R and 238-362del) in the CPS1 gene cause carbamoyl phosphate synthetase I deficiency;Aoshima;Hum Hered,2001a

5. Carbamoyl phosphate synthetase I deficiency: molecular genetic findings and prenatal diagnosis;Aoshima;Prenat Diagn,2001b

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