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

Galactosemia is an autosomal recessive disorder of human galactose metabolism caused by deficiency of the enzyme galactose-1-phosphate uridyl transferase (GALT). The molecular basis of this disorder is at present not well understood. We report here two missense mutations which result in low or undet...

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Bibliografische gegevens
Hoofdauteurs: Reichardt, J K, Packman, S, Woo, S L
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: 1991
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683190/
https://ncbi.nlm.nih.gov/pubmed/1897530
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