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Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance

29 Sept 2010

Abstract excerpt

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 are reported here for the first time. DNA sequence analysis of 61 HFI patients revealed single base mutations in...

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PMID: 20882353
DOI: 10.1007/s10545-010-9192-5

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