Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype.

S. Shackleton, D. T. Smallwood, P. Clayton, L. C. Wilson, A. K. Agarwal, A. Garg, R. C. Trembath

Research output: Contribution to journalLetter

88 Scopus citations
Original languageEnglish (US)
Pages (from-to)e36
JournalJournal of medical genetics
Volume42
Issue number6
DOIs
StatePublished - Jun 2005

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this