Journal article
Genetic and functional insights into CDA-I prevalence and pathogenesis
- Abstract:
-
Background 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 participate.
Methods Genetic analysis of a cohort of patients with CDA-I identifies novel pathogenic variants in both known causative genes. We analyse the mutation distribution and the predict...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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Authors
Bibliographic Details
- Publisher:
- BMJ Publishing Group Publisher's website
- Journal:
- Journal of Medical Genetics Journal website
- Volume:
- 58
- Issue:
- 3
- Pages:
- 185-195
- Publication date:
- 2020-06-09
- Acceptance date:
- 2020-04-02
- DOI:
- EISSN:
-
1468-6244
- ISSN:
-
0022-2593
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
1107500
- Local pid:
- pubs:1107500
- Deposit date:
- 2020-05-29
Terms of use
- Copyright holder:
- Olijnik, A-A et al.
- Copyright date:
- 2020
- Rights statement:
- © Author(s) (or their employer(s)) 2020. No commercial re-use. See rights and permissions. Published by BMJ.
- Notes:
- This is the accepted manuscript version of the article. The final version is available online from the BMJ Publishing Group at: http://dx.doi.org/10.1136/jmedgenet-2020-106880
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