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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.
Insulin-regulated trafficking of GLUT4 requires ubiquitination.
Lamb CA, McCann RK, Stöckli J, James DE, Bryant NJ. Lamb CA, et al. Among authors: bryant nj. Traffic. 2010 Nov;11(11):1445-54. doi: 10.1111/j.1600-0854.2010.01113.x. Epub 2010 Sep 20. Traffic. 2010. PMID: 20854370 Free PMC article.
79 results