Whole-exome sequencing uncovered genetic diagnosis of severe inherited haemolytic anaemia: Correlation with clinical phenotypes

Next-generation sequencing has shed light on the diagnosis of previously unsolved cases of inherited haemolytic anaemia (IHA). We employed whole-exome sequencing to explore the molecular diagnostic spectrum of 21 unrelated Thai paediatric patients with non-thalassemic IHA, presenting hydrops fetalis...

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Main Authors: Duantida Songdej, Praguywan Kadegasem, Noppawan Tangbubpha, Werasak Sasanakul, Bhurichaya Deelertthaweesap, Ampaiwan Chuansumrit, Nongnuch Sirachainan
Other Authors: Faculty of Medicine Ramathibodi Hospital, Mahidol University
Format: Article
Published: 2022
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Online Access:https://repository.li.mahidol.ac.th/handle/123456789/74930
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Institution: Mahidol University