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 journalLetterpeer-review

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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