Molecular characterization of two galactosemia mutations: correlation of mutations with highly conserved domains in galactose-1-phosphate uridyl transferase.

Gelijkaardige items

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• 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
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• Molecular basis of galactosemia: Mutations and polymorphisms in the gene encoding human galactose-1-phosphate uridylyltransferase
  Gepubliceerd in: (1991)