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The pathogenesis, diagnosis and management of congenital dyserythropoietic anaemia type I

Congenital dyserythropoietic anaemia type I (CDA‐I) is one of a heterogeneous group of inherited anaemias characterised by ineffective erythropoiesis. CDA‐I is caused by bi‐allelic mutations in either CDAN1 or C15orf41 and, to date, 56 causative mutations have been documented. The diagnostic pathway...

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Detalles Bibliográficos
Autores principales: Roy, Noémi B. A., Babbs, Christian
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6519365/
https://www.ncbi.nlm.nih.gov/pubmed/30836435
http://dx.doi.org/10.1111/bjh.15817