Article
The mutation spectrum of the facilitative glucose transporter gene SLC2A2 (GLUT2) in patients with Fanconi-Bickel syndrome.
Human genetics - 1 Jan 2002
Santer René, Groth Sebastian, Kinner Martina, Dombrowski Anja, Berry Gerard T, Brodehl Johannes, Leonard James V, Moses Shimon, Norgren Svante, Skovby Flemming, Schneppenheim Reinhard, Steinmann Beat, Schaub Jürgen
Abstract excerpt
We report a total of 23 novel mutations of the SLC2A2 ( GLUT2) gene in 49 patients with a clinical diagnosis of Fanconi-Bickel syndrome (FBS). Molecular genetic analysis has now been performed in more than 50% of the 109 FBS cases from 88 families that we have been able to locate world-wide since the original report in 1949. In these 49 patients, 33 different SLC2A2 mutations (9 missense, 7 nonsense, 10...
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