A novel mutation in the GLUT2 gene in a patient with Fanconi-Bickel syndrome detected by neonatal screening for galactosaemia.
Beteiligte Einrichtungen
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.
Bibliografische Daten
| Originalsprache | Deutsch |
|---|---|
| Aufsatznummer | 2 |
| ISSN | 0141-8955 |
| Status | Veröffentlicht - 2004 |
| pubmed | 15243984 |
|---|
