DOI: 10.1055/s-00000041

Neuropediatrics

References

Tabatabaie L, de Koning TJ, Geboers AJJM, van den Berg IET, Berger R, Klomp LWJ.
Novel mutations in 3-phosphoglycerate dehydrogenase (PHGDH) are distributed throughout the protein and result in altered enzyme kinetics.

Hum Mutat 2009;
30 (5) 749-756

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