Učitavanje...
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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| Glavni autori: | , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1991
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| Teme: | |
| Online pristup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683190/ https://ncbi.nlm.nih.gov/pubmed/1897530 |
| Oznake: |
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