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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Detalles Bibliográficos
Autores principales: Dongerdiye, Rashmi, Sampagar, Abhilasha, Devendra, Rati, Warang, Prashant, Kedar, Prabhakar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317388/
https://www.ncbi.nlm.nih.gov/pubmed/34321014
http://dx.doi.org/10.1186/s12920-021-01038-2

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8317388/
https://www.ncbi.nlm.nih.gov/pubmed/34321014
http://dx.doi.org/10.1186/s12920-021-01038-2

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