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An exon 53 frameshift mutation in CUBN abrogates cubam function and causes Imerslund-Gräsbeck syndrome in dogs
Cobalamin malabsorption accompanied by selective proteinuria is an autosomal recessive disorder known as Imerslund-Gräsbeck syndrome in humans and was previously described in dogs due to amnionless (AMN) mutations. The resultant vitamin B(12) deficiency causes dyshematopoiesis, lethargy, failure to...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
2013
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| Θέματα: | |
| Διαθέσιμο Online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3729882/ https://ncbi.nlm.nih.gov/pubmed/23746554 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2013.05.006 |
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