The Thr224Asn mutation in the VPS45 gene is associated with the congenital neutropenia and primary myelofibrosis of infancy.
Stepensky P, Saada A, Cowan M, Tabib A, Fischer U, Berkun Y, Saleh H, Simanovsky N, Kogot-Levin A, Weintraub M, Ganaiem H, Shaag A, Zenvirt S, Borkhardt A, Elpeleg O, Bryant NJ, Mevorach D.
Stepensky P, et al. Among authors: bryant nj.
Blood. 2013 Jun 20;121(25):5078-87. doi: 10.1182/blood-2012-12-475566. Epub 2013 Apr 18.
Blood. 2013.
PMID: 23599270
Free article.