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

2021-02-23

Abstract excerpt

<title>Abstract</title> <p>BackgroundAdenylate kinase (AK) deficiency is an uncommon form of congenital non-spherocytic haemolytic anaemia. To date, only 13 families have been affected by this disorder exhibiting symptoms like chronic anaemia supported by recurrent blood transfusions, jaundice, hepatosplenomegaly, and mental and psychomotor retardation in exceptional cases. This study aimed to identify a pathogen...

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Literature Corpus work
836e594f-f42c-5b7c-b62d-1c662f94c416
DOI
10.21203/rs.3.rs-219658/v1
Open publication

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Rare hereditary nonspherocytic hemolytic anemia caused by novel homozygous mutation, c.301C&gt;A, (Q101K) in the AK1 gene in an Indian familyDOI 10.21203/rs.3.rs-219658/v1
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