A novel ATRX variant with splicing consequences in myelodysplastic syndrome with acquired alpha thalassaemia
- Author(s)
- Nguyen, PC; Tiong, IS; Westerman, DA; Blombery, P;
- Details
- Publication Year 2023-01,Volume 200,Issue #1,Page e13-e16
- Journal Title
- British Journal of Haematology
- Publication Type
- Case report
- Publisher
- Wiley
- Keywords
- Humans; *alpha-Thalassemia/complications/genetics; *Myelodysplastic Syndromes/genetics; RNA Splicing; *Genetic Diseases, X-Linked; Mutation; X-linked Nuclear Protein/genetics; genetic analysis; myeloid leukaemia; red blood cell disorders; somatic mutation; thalassaemia
- Department(s)
- Pathology
- PubMed ID
- 36278851
- Publisher's Version
- https://doi.org/10.1111/bjh.18525
- Terms of Use/Rights Notice
- Refer to copyright notice on published article.
Creation Date: 2023-06-13 07:55:06
Last Modified: 2024-07-16 04:01:36