Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene

@inproceedings{Thomsen2009CongenitalBS,
  title={Congenital bovine spinal dysmyelination is caused by a missense mutation in the SPAST gene},
  author={Bo Thomsen and Peter H Nissen and J{\o}rgen Steen Agerholm and Christian Bendixen},
  booktitle={neurogenetics},
  year={2009}
}
Bovine spinal dysmyelination (BSD) is a recessive congenital neurodegenerative disease in cattle (Bos taurus) characterized by pathological changes of the myelin sheaths in the spinal cord. The occurrence of BSD is a longstanding problem in the American Brown Swiss (ABS) breed and in several European cattle breeds upgraded with ABS. Here, we show that the disease locus on bovine chromosome 11 harbors the SPAST gene that, when mutated, is responsible for the human disorder hereditary spastic… CONTINUE READING
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