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A missense mutation in the 3-ketodihydrosphingosine reductase FVT1 as candidate causal mutation for bovine spinal muscular atrophy
The bovine form of the autosomal recessive neurodegenerative disease spinal muscular atrophy (SMA) shows striking similarity to the human form of the disease. It has, however, been mapped to a genomic region not harboring the bovine orthologue of the SMN gene, mutation of which causes human SMA. Aft...
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| Main Authors: | , , , , |
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| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
National Academy of Sciences
2007
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1868895/ https://ncbi.nlm.nih.gov/pubmed/17420465 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.0607721104 |
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