Article

The spectrum of rare and novel indel mutations responsible for β Thalassemia in eastern India

2022-08-30

Abstract excerpt

<h4>Purpose</h4> There is limited data available regarding the clinical utility of routine molecular diagnosis of β Thalassaemia in addition to HPLC-based screening in low resource settings. The current study highlights the caveats of an HPLC-based screening compared to the inclusion of genetic confirmation as a second-tier test and its implications in terms of genotype-phenotype correlation. <h4>Material and Meth...

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Literature Corpus work: 1036b63d-fe76-52d6-9b7b-9697e3ffac27
DOI: 10.1101/2022.08.29.22279342

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