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June 1, 2005Journal of Medical GeneticsOpen Access

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

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Shackleton et al. (2005) studied this question.

synapsesocial.com/papers/6a97de046ac1408ff2e17135 https://doi.org/10.1136/jmg.2004.029751

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Lamin A Truncation in Hutchinson-Gilford ProgeriaOriginal Research · 2003 · 1,508 citations
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5Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasiaOriginal Research · 2003 · 403 citations