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Hereditary fructose intolerance: Frequency and spectrum mutations of the aldolase B gene in a large patients cohort from France—Identification of eight new mutations

✍ Scribed by Anne Davit-Spraul; Catherine Costa; Mokhtar Zater; Dalila Habes; Jacques Berthelot; Pierre Broué; François Feillet; Olivier Bernard; Philippe Labrune; Christiane Baussan


Book ID
116988381
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
621 KB
Volume
94
Category
Article
ISSN
1096-7192

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Six novel alleles identified in Italian
✍ Gabriella Esposito; Rita Santamaria; Luigi Vitagliano; Luigi Ieno; Antonietta Vi 📂 Article 📅 2004 🏛 John Wiley and Sons 🌐 English ⚖ 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