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 journalArticle

87 Citations (Scopus)
Original languageEnglish (US)
JournalJournal of medical genetics.
Volume42
Issue number6
StatePublished - Jun 2005

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DNA Mutational Analysis
Progeria
Protein Precursors
Metalloproteases
Preschool Children
Heterozygote
Nuclear Proteins
Cell Nucleus
Lipoproteins
Membrane Proteins
Phenotype
Mutation
prelamin A

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

Compound heterozygous ZMPSTE24 mutations reduce prelamin A processing and result in a severe progeroid phenotype. / Shackleton, S.; Smallwood, D. T.; Clayton, P.; Wilson, L. C.; Agarwal, A. K.; Garg, A.; Trembath, R. C.

In: Journal of medical genetics., Vol. 42, No. 6, 06.2005.

Research output: Contribution to journalArticle

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AU - Garg, A.

AU - Trembath, R. C.

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