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

Abstract 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 t...

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Main Authors: Rashmi Dongerdiye (Author), Abhilasha Sampagar (Author), Rati Devendra (Author), Prashant Warang (Author), Prabhakar Kedar (Author)
Format: Book
Published: BMC, 2021-07-01T00:00:00Z.
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3rd Floor Main Library

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