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Association of the widespread A149P hereditary fructose intolerance mutation with newly identified sequence polymorphisms in the aldolase B gene.

Hereditary fructose intolerance (HFI) is a potentially fatal autosomal recessive disease resulting from the catalytic deficiency of fructose 1-phosphate aldolase (aldolase B) in fructose-metabolizing tissues. The A149P mutation in exon 5 of the aldolase B gene, located on chromosome 9q21.3-q22.2, is...

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Bibliografiske detaljer
Main Authors: Brooks, C C, Tolan, D R
Format: Artigo
Sprog:Inglês
Udgivet: 1993
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC1682077/
https://ncbi.nlm.nih.gov/pubmed/8096362
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