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Homozygous mutations in a predicted endonuclease are a novel cause of congenital dyserythropoietic anemia type I.

Abstract:

The congenital dyserythropoietic anemias are a heterogeneous group of rare disorders primarily affecting erythropoiesis with characteristic morphological abnormalities and a block in erythroid maturation. Mutations in the CDAN1 gene, which encodes Codanin-1, underlie the majority of congenital dyserythropoietic anemia type I cases. However, no likely pathogenic CDAN1 mutation has been detected in approximately 20% of cases, suggesting the presence of at least one other locus. We used whole ge...

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Publication status:
Published

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Authors


Roberts, NA More by this author
Sanchez-Pulido, L More by this author
McGowan, SJ More by this author
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Journal:
Haematologica
Volume:
98
Issue:
9
Pages:
1383-1387
Publication date:
2013-09-05
DOI:
EISSN:
1592-8721
ISSN:
0390-6078
URN:
uuid:6ba4ffd9-72ce-41a0-8530-7d0694960678
Source identifiers:
401168
Local pid:
pubs:401168

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