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Mutations in the Promoter Region of the Aldolase B Gene that cause Hereditary Fructose Intolerance
Hereditary fructose intolerance (HFI) is a potentially fatal inherited metabolic disease caused by a deficiency of aldolase B activity in the liver and kidney. Over 40 disease-causing mutations are known in the protein-coding region of ALDOB. Mutations upstream of the protein-coding portion of ALDOB...
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| Hlavní autoři: | , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
2010
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| Témata: | |
| On-line přístup: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2993836/ https://ncbi.nlm.nih.gov/pubmed/20882353 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-010-9192-5 |
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