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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

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...

Ausführliche Beschreibung

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Bibliographische Detailangaben
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
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1907369/
https://ncbi.nlm.nih.gov/pubmed/12552079
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