Next-generation sequencing-based molecular diagnosis of chronic non-spherocytic hemolysis in erythrocytic enzymopathies
Mutations in genes encoding red blood cell enzymes are often inherited in an autosomal recessive manner and can lead to chronic nonspherocytic hemolytic anemia (CNSHA) in homozygotes and compound heterozygotes. Usual clinical manifestations include jaundice, cholelithiasis and splenomegaly with norm...
Main Authors: | , , , , , , |
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Format: | Article |
Language: | English |
Published: |
Science Planet Inc.
2017-10-01
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Series: | Canadian Journal of Biotechnology |
Online Access: | https://www.canadianjbiotech.com/CAN_J_BIOTECH/Archives/v1/Special Issue/cjb.2017-a70.pdf |