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Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect.
J Biol Chem. 2016 Sep 23;291(39):20563-73. doi: 10.1074/jbc.M116.747717. Epub 2016 Aug 12.
J Biol Chem. 2016.
PMID: 27519416
Free PMC article.
Understanding N-Acetyl-L-Glutamate Synthase Deficiency: Mutational Spectrum, Impact of Clinical Mutations on Enzyme Functionality, and Structural Considerations.
Sancho-Vaello E, Marco-Marín C, Gougeard N, Fernández-Murga L, Rüfenacht V, Mustedanagic M, Rubio V, Häberle J.
Sancho-Vaello E, et al. Among authors: mustedanagic m.
Hum Mutat. 2016 Jul;37(7):679-94. doi: 10.1002/humu.22995. Epub 2016 May 6.
Hum Mutat. 2016.
PMID: 27037498
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