Null alleles of the aldolase B gene in patients with hereditary fructose intolerance.

We report three new mutations in the gene for aldolase B that are associated with hereditary fructose intolerance (HFI). Two nonsense mutations create opal termination codons: R3op (C-->T, Arg3-->ter, exon 2) was found in homozygous form in four affected members of a large consanguineous Turki...

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Bibliographic Details
Main Authors: Ali, M, Tunçman, G, Cross, N C, Vidailhet, M, Bökesoy, I, Gitzelmann, R, Cox, T M
Format: Artigo
Language:Inglês
Published: 1994
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049933/
https://ncbi.nlm.nih.gov/pubmed/8071980
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