Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.

Neha AgrawalRavi KumarSuzena MasihPriyanka SrivastavaParshw SinghSushil Kumar Jaiswal Amita Moirangthem Deepti Saxena Shubha Rao Phadke Kausik Mandal

Published in: International journal of laboratory hematology (2021)

This study provides a comprehensive mutational spectrum and mutation screening strategy by Sanger sequencing of F9 gene in severe hemophilia B patients, in a resource-constraint setting.

Keyphrases

end stage renal disease
copy number
newly diagnosed
ejection fraction
early onset
prognostic factors
single cell
patient reported outcomes