Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population
✍ Scribed by Jakub Gruchota; Ewa Pronicka; Lech Korniszewski; Bartosz Stolarski; Agnieszka Pollak; Małgorzata Rogaszewska; Rafał Płoski
- Book ID
- 116987791
- Publisher
- Elsevier Science
- Year
- 2006
- Tongue
- English
- Weight
- 141 KB
- Volume
- 87
- Category
- Article
- ISSN
- 1096-7192
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We investigated the molecular basis of hereditary fructose intolerance (HFI) in 80 patients from 72 families by means of a PCR-based mutation screening strategy, consisting of heteroduplex analysis, restriction enzyme digest, DNA single strand electrophoresis, and direct sequencing. For a subset of
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