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Molecular analysis of common aldolase B alleles for hereditary fructose intolerance in North Americans

✍ Scribed by Dean R. Tolan; Cydney C. Brooks

Book ID
113383005
Publisher
Elsevier Science
Year
1992
Tongue
English
Weight
447 KB
Volume
48
Category
Article
ISSN
0885-4505

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πŸ“œ SIMILAR VOLUMES

Molecular basis of hereditary fructose i
Molecular basis of hereditary fructose intolerance: Mutations and polymorphisms in the human aldolase B gene
✍ Dean R. Tolan πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 834 KB

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

Six novel alleles identified in Italian
Six novel alleles identified in Italian hereditary fructose intolerance patients enlarge the mutation spectrum of the aldolase B gene
✍ Gabriella Esposito; Rita Santamaria; Luigi Vitagliano; Luigi Ieno; Antonietta Vi πŸ“‚ Article πŸ“… 2004 πŸ› John Wiley and Sons 🌐 English βš– 561 KB

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