1.
J Med Genet
; 33(9): 786-8, 1996 Sep.
Article
in English
| MEDLINE
| ID: mdl-8880583
ABSTRACT
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).
Subject(s)
Fructose Intolerance/genetics , Fructose-Bisphosphate Aldolase/genetics , DNA Mutational Analysis , Exons , Female , Fructose Intolerance/enzymology , Humans , Male , Pedigree
2.
G Gerontol
; 17(1): 47-57, 1968 Mar 02.
Article
in Italian
| MEDLINE
| ID: mdl-5731484