Published in Am J Med Genet A on July 01, 2003
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High residual activity of PMM2 in patients' fibroblasts: possible pitfall in the diagnosis of CDG-Ia (phosphomannomutase deficiency). Am J Hum Genet (2001) 1.06
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A novel MSX1 mutation in hypodontia. Am J Med Genet A (2004) 1.04