Associated Papers
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Noninvasive Prenatal Test for β-Thalassemia and Sickle Cell Disease Using Probe Capture Enrichment and Next-Generation Sequencing of DNA in Maternal Plasma.
Erlich HA et al.
The Journal of Applied Laboratory Medicine, 2022
Spectrum of pathogenic alterations identified after two decades of HBB gene sequencing for molecular diagnosis of beta-thalassaemias and haemoglobinopathies.
Poon KS et al.
Pathology, 2021
Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).
Turner A et al.
Bmc Medical Genetics, 2016
Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.
Divoka M et al.
Hemoglobin, 2016
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