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Literature summary for 3.4.24.84 extracted from

  • Moulson, C.L.; Go, G.; Gardner, J.M.; van der Wal, A.C.; Smitt, J.H.; van Hagen, J.M.; Miner, J.H.
    Homozygous and compound heterozygous mutations in ZMPSTE24 cause the laminopathy restrictive dermopathy (2005), J. Invest. Dermatol., 125, 913-919.
    View publication on PubMedView publication on EuropePMC

Application

Application Comment Organism
medicine restrictive dermopathy is an autosomal recessive laminopathy caused by inactivating Zmpste24 mutations that result in defective processing and nuclear accumulation of prelamin A Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
blood
-
Homo sapiens
-
skin fibroblast
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
FACE-1
-
Homo sapiens
Zmpste24
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Homo sapiens