Neutrophil elastase gene mutations in cyclic neutropenia.
2001
S Ozsoylu
UI
MeSH Term
Description
Entries
D007674
Kidney Diseases
Pathological processes of the KIDNEY or its component tissues.
Disease, Kidney,Diseases, Kidney,Kidney Disease
D009503
Neutropenia
A decrease in the number of NEUTROPHILS found in the blood.
Neutropenias
D006801
Humans
Members of the species Homo sapiens.
Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D000686
Amyloidosis
A group of sporadic, familial and/or inherited, degenerative, and infectious disease processes, linked by the common theme of abnormal protein folding and deposition of AMYLOID. As the amyloid deposits enlarge they displace normal tissue structures, causing disruption of function. Various signs and symptoms depend on the location and size of the deposits.
Amyloidoses
D019272
Leukocyte Elastase
An enzyme that catalyzes the hydrolysis of proteins, including elastin. It cleaves preferentially bonds at the carboxyl side of Ala and Val, with greater specificity for Ala. EC 3.4.21.37.