Mutation of aldolase B genes in hereditary fructose intolerance
β Scribed by De Souza, M.; Lindeman, R.; Volpato, F.; Trent, R.J.; Kamath, R.
- Book ID
- 123048399
- Publisher
- The Lancet
- Year
- 1990
- Tongue
- English
- Weight
- 162 KB
- Volume
- 335
- Category
- Article
- ISSN
- 0140-6736
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π SIMILAR VOLUMES
Mutations in the human aldolase B gene that result in hereditary fructose intolerance have been characterized extensively. Although the majority of subjects have been from northern Europe, subjects from other geographical regions and ethnic groups have been identified. At present 2 1 mutations have
Hereditary fructose intolerance (HFI) is a recessively inherited disorder of carbohydrate metabolism caused by impaired functioning of human liver aldolase (B isoform; ALDOB). To-date, 29 enzyme-impairing mutations have been identified in the aldolase B gene. Here we report six novel HFI single nucl