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Hereditary fructose intolerance caused by a nonsense mutation of the aldolase B gene.

The nucleotide sequence of a patient's aldolase B gene was determined and showed a substitution of a single nucleotide (C----A) at position 720 in the coding region, which resulted in the 240th amino acid, a cysteine, being changed to a stop codon (TGC----TGA). By an allele-specific oligonucleo...

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Detalles Bibliográficos
Main Authors: Kajihara, S, Mukai, T, Arai, Y, Owada, M, Kitagawa, T, Hori, K
Formato: Artigo
Idioma:Inglês
Publicado: 1990
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC1683875/
https://ncbi.nlm.nih.gov/pubmed/2203259
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