Published in Medical Letter on the CDC and FDA, February 2nd, 2003
"Nine North American patients with CDG type I and different ethnic origins were studied," said Gregory M. Enns at Stanford University and colleagues throughout the United States. "All patients had transferrin isoelectric focusing studies with a type I sialotransferrin pattern. Molecular analysis showed the previously described R141 H, V231M, and T237M PMM2 mutations in four...
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