Exhaustive mutation analysis of the PMM2 gene in patients with the carbohydrate-deficient glycoprotein syndrome type I (CDG1 or Jaeken syndrome) and cloning of the mouse Pmm1 and Pmm2 genes.

Matthijs, G.;Schollen, E.;Jaeken, J.;Van Schaftingen, Emile;Cassiman, JJ.
(1997)

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Matthijs, G., Schollen, E., Jaeken, J., Van Schaftingen, E., & Cassiman, JJ. (1997). Exhaustive mutation analysis of the PMM2 gene in patients with the carbohydrate-deficient glycoprotein syndrome type I (CDG1 or Jaeken syndrome) and cloning of the mouse Pmm1 and Pmm2 genes. American Journal of Human Genetics, 61(4), A12-A12. (Original work published 1997)