Molecular basis of hereditary fructose intolerance in Italy: identification of two novel mutations in the aldolase B gene
| Přístupová URL adresa: | https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6d47f80f6029abb9147a9d506fd60eaa http://hdl.handle.net/11588/163562 |
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| Rights: | OPEN |
| Přírůstkové číslo: | edsair.doi.dedup.....6d47f80f6029abb9147a9d506fd60eaa |
| Autor: | Paola Izzo, Gianfranco Sebastio, Francesco Salvatore, S Tamasi, C Borrone, Generoso Andria, Rita Santamaria, G Faldella, G Del Piano |
| Přispěvatelé: | Santamaria, R., S., Tamasi, G., DEL PIANO, G., Sebastio, G., Andria, C., Borrone, G., Faldella, P., Izzo, Salvatore, Francesco, Santamaria, Rita, Tamasi, S., DEL PIANO, G., Sebastio, G., Andria, G., Borrone, C., Faldella, G., Izzo, Paola, Salvatore, F. |
| Rok vydání: | 1996 |
| Předmět: |
Genetics
Male Mutation biology Transition (genetics) Aldolase B Hereditary fructose intolerance DNA Mutational Analysis Fructose Intolerance Fructose-bisphosphate aldolase Exons medicine.disease_cause medicine.disease Stop codon Pedigree Exon Fructose-Bisphosphate Aldolase biology.protein medicine Humans Female Genetics (clinical) Research Article |
| Zdroj: | Scopus-Elsevier |
| Popis: | 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 Arg with a Trp residue at codon 303 (R303W). |
| Databáze: | OpenAIRE |
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