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Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption (ICM), is a disorder in which the intestines fail to absorb enough Vitamin B12.
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Caractéristiques
| Breeds | |
|---|---|
| Gene | |
| Chromosome | 2 |
| Mutation | c.8746+1G>A |
| Mode of Inheritance | Autosomique récessif |
| Organ | |
| Specimen | Écouvillonnage, sanguin EDTA, sanguine hépariné, sperme, tissu |
| Also known as | I-GS |
Informations générales
Imerslund-Gräsbeck Syndrome (IGS), also known as Selective Intestinal Cobalamin Malabsorption (ICM), is a disorder in which the intestines fail to absorb enough Vitamin B12. This variant, caused by a recessive mutation to the gene CUBN, is found in the Komondor. Closely related variants also occur in the Border Collie and Beagle.
Caractéristiques cliniques
Vitamin B12 deficiency caused by IGS becomes apparent in affected puppies between 2 and 5 months of age. Symptoms include lack of appetite, failure to thrive, weakness, vomiting, diarrhoea and possibly tremors and seizures.
Additional Information
Références
Pubmed ID: 30591068
Year published: 2018
Omia ID: 1786
Omia variant ID: 1036