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

被引：22

作者：

Santamaria, R

Tamasi, S

DelPiano, G

Sebastio, G

Andria, G

Borrone, C

Faldella, G

Izzo, P

Salvatore, F

机构：

[1] UNIV NAPLES FEDERICO II,DIPARTIMENTO BIOCHIM & BIOTECNOL MED,CEINGE BIOTECNOL AVANZATE,SCH MED,I-80131 NAPLES,ITALY

[2] UNIV NAPLES FEDERICO II,DIPARTIMENTO PEDIAT,I-80131 NAPLES,ITALY

[3] IST GIANNINA GASLINI,I-16148 GENOA,ITALY

[4] UNIV BOLOGNA,IST CLIN PEDIAT PREVENT & NEONATOL,I-40138 BOLOGNA,ITALY

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 09期

关键词：

hereditary fructose intolerance; aldolase B; gene mutations;

D O I：

10.1136/jmg.33.9.786

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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).

引用

页码：786 / 788

页数：3

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