Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene: New Assays to Increase the Sensitivity and Specificity of Newborn Screening for Galactosemia

Autor: Dobrowolski, Steven F., Banas, Richard A., Suzow, Joseph G., Berkley, Michelle, Naylor, Edwin W.
Zdroj: In The Journal of Molecular Diagnostics 2003 5(1):42-47
Databáze: ScienceDirect