Overview of Bardet-Biedl syndrome in Spain: identification of novel mutations in BBS1, BBS10 and BBS12 genes

Clin Genet. 2014 Dec;86(6):601-2. doi: 10.1111/cge.12334. Epub 2014 Jan 26.
No abstract available

Publication types

  • Letter
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bardet-Biedl Syndrome / genetics*
  • Chaperonins
  • Group II Chaperonins / genetics*
  • Humans
  • Microtubule-Associated Proteins / genetics*
  • Mutation*
  • Spain

Substances

  • BBS10 protein, human
  • BBS12 protein, human
  • Bbs1 protein, human
  • Microtubule-Associated Proteins
  • Chaperonins
  • Group II Chaperonins