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Aldolase B mutations in Italian families affected by hereditary fructose intolerance
Sebastio G, et al. J Med Genet 1991. PMID 1856829 Free PMC article.
The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exon 5), A174D (a C----A transversion in exon 5), L288 delta C (a base pair deletion in exon 8), and N334K (a G----C transversion in exon 9). ...
The aldolase B gene has been cloned and the following mutations causing HFI have been identified: A149P (a G----C transversion in exo …
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