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A missense mutation in the 3-ketodihydrosphingosine reductase <i>FVT1</i> as candidate causal mutation for bovine spinal muscular atrophy

9 Apr 2007

Abstract excerpt

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. After refinement of the mapping results we analyzed positional and functional candidate genes. One of three candidate...

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PMID: 17420465
DOI: 10.1073/pnas.0607721104

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