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Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
Person RE, Li FQ, Duan Z, Benson KF, Wechsler J, Papadaki HA, Eliopoulos G, Kaufman C, Bertolone SJ, Nakamoto B, Papayannopoulou T, Grimes HL, Horwitz M. Person RE, et al. Nat Genet. 2003 Jul;34(3):308-12. doi: 10.1038/ng1170. Nat Genet. 2003. PMID: 12778173 Free PMC article.
Paradoxical homozygous expression from heterozygotes and heterozygous expression from homozygotes as a consequence of transcriptional infidelity through a polyadenine tract in the AP3B1 gene responsible for canine cyclic neutropenia.
Benson KF, Person RE, Li FQ, Williams K, Horwitz M. Benson KF, et al. Among authors: person re. Nucleic Acids Res. 2004 Dec 1;32(21):6327-33. doi: 10.1093/nar/gkh974. Print 2004. Nucleic Acids Res. 2004. PMID: 15576359 Free PMC article.
104 results