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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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Publisher copy:
10.1136/jmedgenet-2020-106880

Authors


More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Clinical Laboratory Sciences
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
Weatherall Insti. of Molecular Medicine
Role:
Author
Publisher:
BMJ Publishing Group
Journal:
Journal of Medical Genetics More from this journal
Volume:
58
Issue:
3
Pages:
185-195
Publication date:
2020-06-09
Acceptance date:
2020-04-02
DOI:
EISSN:
1468-6244
ISSN:
0022-2593
Language:
English
Keywords:
Pubs id:
1107500
Local pid:
pubs:1107500
Deposit date:
2020-05-29

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