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, 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)