Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.

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@article{SanchoVaello2016UnderstandingNS, title={Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.}, author={Enea Sancho-Vaello and Clara Marco-Mar{\'i}n and Nadine Gougeard and Leonor Fern{\'a}ndez-Murga and V{\'e}ronique R{\"{u}fenacht and Merima Mustedanagic and Vicente Rubio and Johannes H{\"a}berle}, journal={Human mutation}, year={2016}, volume={37 7}, pages={679-94} }