Molecular Defects in Human Carbamoyl Phosphate Synthetase I: Mutational Spectrum, Diagnostic and Protein Structure Considerations

Deficiency of carbamoyl phosphate synthetase I (CPSI) results in hyperammonemia ranging from neonatally lethal to environmentally induced adult-onset disease. Over 24 years, analysis of tissue and DNA samples from 205 unrelated individuals diagnosed with CPSI deficiency (CPSID) detected 192 unique C...

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Bibliographic Details
Published in:Hum Mutat
Main Authors: 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
Format: Artigo
Language:Inglês
Published: 2011
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4861085/
https://ncbi.nlm.nih.gov/pubmed/21120950
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.21406
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