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Partial aldolase B gene deletions in hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is an autosomal recessive condition caused by a deficiency of aldolase B. We have recently shown that three point mutations in this gene account for approximately 85% of HFI alleles in Europe and the United States and are thus of diagnostic importance. In this p...
Shranjeno v:
| Main Authors: | , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
1990
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1683764/ https://ncbi.nlm.nih.gov/pubmed/2349937 |
| Oznake: |
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