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...
Main Authors: | 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 |
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Format: | Journal article |
Language: | English |
Published: |
BMJ Publishing Group
2020
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