Genetic and functional insights into CDA-I prevalence and pathogenesis

<p><strong>Background</strong> Congenital dyserythropoietic anaemia type I (CDA-I) is a hereditary anaemia caused by biallelic mutations in the widely expressed genes CDAN1 and C15orf41. Little is understood about either protein and it is unclear in which cellular pathways they par...

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المؤلفون الرئيسيون: Olijnik, A-A, Scott, C, Roy, NB, Marsh, JA, Brown, J, Laushke, K, Ask, K, Roberts, N, Downes, DJ, Brolih, S, Johnson, E, Xella, B, Proven, M, Hipkiss, R, Ryan, K, Frisk, P, Johan, M, Stattin, E-LM, Sadasivam, N, McIlwaine, L, Hill, QA, Renella, R, Hughes, JR, Gibbons, RJ, Groth, A, McHugh, PJ, Higgs, DR, Buckle, VJ, Babbs, C
التنسيق: Journal article
اللغة:English
منشور في: BMJ Publishing Group 2020