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Erythrocyte adenylate kinase deficiency: characterization of recombinant mutant forms and relationship with nonspherocytic hemolytic anemia.

Abstract:

OBJECTIVE: Red cell adenylate kinase (AK) deficiency is a rare hereditary erythroenzymopathy associated with moderate to severe nonspherocytic hemolytic anemia and, in some cases, with mental retardation and psychomotor impairment. To date, diagnosis of AK deficiency depends upon demonstration of low enzyme activity in red blood cells and detection of mutations in AK1 gene. To investigate the molecular bases of the AK deficiency, we characterized five variants of AK1 isoenzyme-bearing mutati...

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Publication status:
Published

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Institution:
University of Oxford
Department:
Oxford, MSD, Pathology Dunn School
Role:
Author
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Journal:
Experimental hematology
Volume:
35
Issue:
8
Pages:
1182-1189
Publication date:
2007-08-05
DOI:
EISSN:
1873-2399
ISSN:
0301-472X
URN:
uuid:e8ec28ae-7861-4ad0-ad26-8bbc1e8703af
Source identifiers:
55342
Local pid:
pubs:55342

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