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Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.

Bibliographic reference Van Schaftingen, Emile ; Jaeken, J.. Phosphomannomutase deficiency is a cause of carbohydrate-deficient glycoprotein syndrome type I.. In: FEBS letters, Vol. 377, no. 3, p. 318-20 (1995)
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