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Article

Red cell adenylate kinase deficiency in China: molecular study of 2 new mutations (413G > A, 223dupA).

BMC medical genomics - 4 May 2022

He Sijia, Chen Hongbo, Guo Xia, Gao Ju

Abstract excerpt

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 related to haemolytic anaemia. Chronic haemolytic anaemia associated with AK deficiency is a rare condition, and only 14...

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PMID: 35509045
DOI: 10.1186/s12920-022-01248-2
PMCID: PMC9066714

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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