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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.

Bibliographic reference Matthijs, G. ; Schollen, E. ; Jaeken, J. ; Van Schaftingen, Emile ; Cassiman, JJ.. 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..In: American Journal of Human Genetics, Vol. 61, no. 4, p. A12-A12 (1997)
Permanent URL http://hdl.handle.net/2078.1/62569