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Simultaneous Amplification, Detection, and Analysis of Common Mutations in the Galactose-1-Phosphate Uridyl Transferase Gene

Classic galactosemia is an autosomal recessive inherited error of galactose metabolism. It is caused by lack of galactose-1-phosphate uridyl transferase, an enzyme that is required to metabolize galactose-1-phosphate to uridine diphosphate galactose. The build up of galactose-1-phosphate is toxic at...

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Bibliografische gegevens
Hoofdauteurs: Jama, Mohamed, Nelson, Lesa, Mao, Rong, Lyon, Elaine
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: American Society for Investigative Pathology 2007
Onderwerpen:
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC2049049/
https://ncbi.nlm.nih.gov/pubmed/17884932
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2353/jmoldx.2007.070027
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