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Rare hereditary nonspherocytic hemolytic anemia caused by a novel homozygous mutation, c.301C > A, (Q101K), in the AK1 gene in an Indian family

BACKGROUND: Adenylate kinase (AK) deficiency is a rare red cell enzymopathy associated with moderate to severe congenital nonspherocytic hemolytic anemia, along with mental and psychomotor retardation (in exceptional cases). Only ten mutations have been detected in the AK1 gene to date. In this stud...

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Bibliografiske detaljer
Udgivet i:BMC Med Genomics
Main Authors: Dongerdiye, Rashmi, Sampagar, Abhilasha, Devendra, Rati, Warang, Prashant, Kedar, Prabhakar
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2021
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8317388/
https://ncbi.nlm.nih.gov/pubmed/34321014
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-021-01038-2
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