Clinical utility gene card for: Zellweger syndrome spectrum

Eur J Hum Genet. 2015 Aug;23(8). doi: 10.1038/ejhg.2014.250. Epub 2014 Nov 19.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATPases Associated with Diverse Cellular Activities
  • Genetic Testing
  • Humans
  • Membrane Proteins / genetics
  • Mutation
  • Pathology, Molecular*
  • Zellweger Syndrome / diagnosis*
  • Zellweger Syndrome / genetics*
  • Zellweger Syndrome / pathology

Substances

  • Membrane Proteins
  • ATPases Associated with Diverse Cellular Activities
  • PEX1 protein, human