Article
Molecular analysis of severe hemophilia B in Indian families: Identification of mutational hotspot and novel variants.
International journal of laboratory hematology - 1 Feb 2022
Agrawal Neha, Kumar Ravi, Masih Suzena, Srivastava Priyanka, Singh Parshw, Jaiswal Sushil Kumar, Moirangthem Amita, Saxena Deepti, Phadke Shubha R, Mandal Kausik
Abstract excerpt
INTRODUCTION: Hemophilia B is associated with molecular heterogeneity, with more than 1200 unique variants in the F9 gene. We hereby describe the mutational spectrum of severe hemophilia B patients presenting in a tertiary-care center in India. METHOD: DNA was extracted from peripheral blood samples of 35 diagnosed severe hemophilia B patients belonging to 32 families, and were subjected to Sanger sequencing....
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