| 释义 |
Hutchinson-Gilford progeria syndrome
Hutch·in·son-Gil·ford progeria syndrome H0336050 (hŭch′ĭn-sən-gĭl′fərd)n. See progeria.
[After Sir Jonathan Hutchinson (1828-1913) and Hastings , Gilford (1861-1941), British physicians.]EncyclopediaSeeprogeriaHutchinson-Gilford progeria syndrome
Hutchinson-Gilford progeria syndrome (hŭch′ĭn-sən-gĭl′fərd)n. See progeria.ZMPSTE24 A gene on chromosome 1p34 that encodes a member of the M48A peptidase amily, which is a zinc metalloproteinase involved in the post-translational proteolytic cleavage of carboxy terminal residues of farnesylated prelamin A to form mature lamin A.
Molecular pathology
ZMPSTE24 mutations are linked to mandibuloacral dysplasia and restrictive dermopathy.See HGPS
See HGPS |