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Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia.
Aydin Koker S, Karapinar TH, Oymak Y, Bianchi P, Fermo E, Gozmen S, Vergin C. Aydin Koker S, et al. Among authors: bianchi p. J Pediatr Hematol Oncol. 2018 Oct;40(7):e421-e423. doi: 10.1097/MPH.0000000000001207. J Pediatr Hematol Oncol. 2018. PMID: 29846281
Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.
Fermo E, Bianchi P, Chiarelli LR, Cotton F, Vercellati C, Writzl K, Baker K, Hann I, Rodwell R, Valentini G, Zanella A. Fermo E, et al. Among authors: bianchi p. Br J Haematol. 2005 Jun;129(6):839-46. doi: 10.1111/j.1365-2141.2005.05520.x. Br J Haematol. 2005. PMID: 15953013
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