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Aldolase B mutations in Italian families affected by hereditary fructose intolerance.
Hereditary fructose intolerance (HFI) is an inborn error of metabolism caused by aldolase B deficiency. The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exon 5), A174D (a C----A transversion in exon 5), L288 delta C (a...
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Main Authors: | , , , , , , , , |
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格式: | Artigo |
語言: | Inglês |
出版: |
1991
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在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016824/ https://ncbi.nlm.nih.gov/pubmed/1856829 |
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