Human Genome Epidemiology Literature Finder
Rare Diseases
Records 1 - 2 (of 2 Records) |
Query Trace: Congenital Dyserythropoietic Anemia Type 1[original query] |
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Compound heterozygosity for two novel mutations of the SEC23B gene in congenital dyserythropoietic anemia type II. International journal of hematology 2021 4 114 (3): 390-394. Chen Shanshan, Guo Ziwen, Ye Yongbin, Yang Shanhong, Huang Guini |
Evaluation of the main regulators of systemic iron homeostasis in pyruvate kinase deficiency. Scientific reports 2023 3 13 (1): 4395. Zaninoni Anna, Marra Roberta, Fermo Elisa, Consonni Dario, Andolfo Immacolata, Marcello Anna Paola, Rosato Barbara Eleni, Vercellati Cristina, Barcellini Wilma, Iolascon Achille, Bianchi Paola, Russo Rober |
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