A Congenital Neutrophil Defect Syndrome Associated with Mutations in VPS45

Author: 
Vilboux, T. [etal]
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: 

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: http://library.africa-union.org/congenital-neutrophil-defect-syndrome-associated-mutations-vps45-4

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