Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA)
Background: Adenylate kinase (AK) is a monomolecular enzyme widely found in a variety of organisms. It mainly catalyses the reversible transfer of adenosine nucleotide phosphate groups and plays an important role in maintaining energy metabolism. AK deficiency is a rare genetic disorder that is rela...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
| Published: |
BioMed Central Ltd
2022
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| Subjects: | |
| Online Access: | View Fulltext in Publisher |