Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene.

We screened the aldolase B gene in 14 unrelated Italian patients with hereditary fructose intolerance (HFI), and found two novel disease related mutations: a single nucleotide deletion in exon 2 (delta A20) that leads to an early stop codon, and a C-->T transition in exon 8 that substitutes an Ar...

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Autores principales: Santamaria, R, Tamasi, S, Del Piano, G, Sebastio, G, Andria, G, Borrone, C, Faldella, G, Izzo, P, Salvatore, F
Formato: Artigo
Lenguaje:Inglês
Publicado: 1996
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Research Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050737/
https://ncbi.nlm.nih.gov/pubmed/8880583
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