A novel mutation in the GLUT2 gene in a patient with Fanconi - Bickel syndrome detected by neonatal screening for galactosaemia

Antonella Peduto, M. Spada, A. Alluto, M. La Dolcetta, A. Ponzone, R. Santer

Research output: Contribution to journalArticle

Abstract

A patient affected by Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia is reported. Molecular studies of the GLUT2 gene led to the identification of a novel mutation of the glucose transporter protein.

Original languageEnglish
Pages (from-to)279-280
Number of pages2
JournalJournal of Inherited Metabolic Disease
Volume27
Issue number2
DOIs
Publication statusPublished - 2004

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Endocrinology

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