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Identification of a splice-site mutation in the aldolase B gene from an individual with hereditary fructose intolerance.

Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease of carbohydrate metabolism. HFI patients exhibit a deficiency of fructose 1-phosphate aldolase (aldolase B), the isozyme expressed in tissues that metabolize fructose. The eight protein-coding exons, including s...

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Autori principali: Brooks, C C, Buist, N, Tuerck, J, Tolan, D R
Natura: Artigo
Lingua:Inglês
Pubblicazione: 1991
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683262/
https://ncbi.nlm.nih.gov/pubmed/1928090
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