Six novel alleles identified in Italian
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Gabriella Esposito; Rita Santamaria; Luigi Vitagliano; Luigi Ieno; Antonietta Vi
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Article
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2004
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John Wiley and Sons
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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