A novel splice site mutation in CEP135 is associated with primary microcephaly in a Pakistani family

J Hum Genet. 2016 Mar;61(3):271-3. doi: 10.1038/jhg.2015.138. Epub 2015 Dec 10.
No abstract available

Publication types

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

MeSH terms

  • Carrier Proteins / genetics*
  • Female
  • Humans
  • Male
  • Microcephaly / genetics*
  • Mutation*
  • Pakistan
  • Pedigree
  • RNA Splicing*

Substances

  • CEP135 protein, human
  • Carrier Proteins