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

Classical galactosemia is a genetic disease caused by mutations in the galactose-1-phosphate uridyl transferase (GALT) gene. Prospective newborn screening for galactosemia is routine and utilizes the universally collected newborn dried blood specimen on filter paper. Screening for galactosemia is ac...

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Hauptverfasser: Dobrowolski, Steven F., Banas, Richard A., Suzow, Joseph G., Berkley, Michelle, Naylor, Edwin W.
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Investigative Pathology 2003
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Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1907369/
https://ncbi.nlm.nih.gov/pubmed/12552079
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