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...

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Detalles Bibliográficos
Autores principales: He, Sijia, Chen, Hongbo, Guo, Xia, Gao, Ju
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9066714/
https://www.ncbi.nlm.nih.gov/pubmed/35509045
http://dx.doi.org/10.1186/s12920-022-01248-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9066714/
https://www.ncbi.nlm.nih.gov/pubmed/35509045
http://dx.doi.org/10.1186/s12920-022-01248-2

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