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...

Celý popis

Uloženo v:
Podrobná bibliografie
Hlavní autoři: Santamaria, R, Tamasi, S, Del Piano, G, Sebastio, G, Andria, G, Borrone, C, Faldella, G, Izzo, P, Salvatore, F
Médium: Artigo
Jazyk:Inglês
Vydáno: 1996
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC1050737/
https://ncbi.nlm.nih.gov/pubmed/8880583
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky