Article
Clinical and biochemical signs in Fleckvieh cattle with genetically confirmed Fanconi-Bickel syndrome (cattle homozygous for Fleckvieh haplotype 2).
Berliner und Munchener tierarztliche Wochenschrift - 1 Jan 2000
Burgstaller Johann, Url Angelika, Pausch Hubert, Schwarzenbacher Hermann, Egerbacher Monika, Wittek Thomas
Abstract excerpt
Fanconi-Bickel Syndrome (FBS) is an autosomal recessive disorder of the carbohydrate metabolism, which has been reported in human and some animals (OMIA 000366-9913). In Fleckvieh cattle it is caused by mutations in SLC2A2, a gene encoding for glucose transporter protein 2 (GLUT2), which is primarily expressed in liver, kidney, pancreas and intestines. The causal mutation resides in a previously reported...
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