Ontology highlight
ABSTRACT:
SUBMITTER: Thomsen B
PROVIDER: S-EPMC1356133 | biostudies-literature | 2006 Jan
REPOSITORIES: biostudies-literature
Genome research 20051212 1
The extensive use of a limited number of elite bulls in cattle breeding can lead to rapid spread of recessively inherited disorders. A recent example is the globally distributed syndrome Complex Vertebral Malformation (CVM), which is characterized by misshapen and fused vertebrae around the cervico-thoracic junction. Here, we show that CVM is caused by a mutation in the Golgi-resident nucleotide-sugar transporter encoded by SLC35A3. Thus, the disease showed complete cosegregation with the mutati ...[more]