A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45
A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45
Publisher:
New England Journal of Medicine
Date published:
2013
Record type:
Journal Title:
The New England Journal of Medicine
Source:
The New England Journal of Medicine, Vol. 369, No. 1, July 4, 2013, pp. 54-65
Abstract:
Seven children in five families were found to have homozygous mutations in a gene associated with vacuolar protein sorting, VPS45, which regulates endosomal membrane trafficking. Five of the seven children have died of overwhelming infection.
Language:
Catagory URL:
CITATION: Vilboux, T. [etal]. A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45 . : New England Journal of Medicine , 2013. The New England Journal of Medicine, Vol. 369, No. 1, July 4, 2013, pp. 54-65 - Available at: https://library.au.int/congenital-neutrophil-defect-syndrome-associated-mutations-vps45-4