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单词 hutchinson-gilford progeria syndrome
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.]
EncyclopediaSeeprogeria

Hutchinson-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
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更新时间:2024/12/23 1:11:59