Article
Molecular spectrum of inherited FVII deficiency in North India revealed a recurrent variant with a founder effect.
Haemophilia : the official journal of the World Federation of Hemophilia - 1 Mar 2023
Sharma Ritika, Jamwal Manu, Senee Hari Kishan, Singh Namrata, Kumar Narender, Hans Chander, Kler Anita, Bansal Deepak, Trehan Amita, Malhotra Pankaj, Ahluwalia Jasmina, Das Reena
Abstract excerpt
INTRODUCTION: Inherited Factor VII (FVII) deficiency is commonest among the rare bleeding disorders. A small number of patients present in infancy with severe bleeding, and many may remain asymptomatic but detected before surgery/invasive procedures. Genetic testing may be helpful in predictive testing/prenatal diagnosis in severe cases. AIM: Characterisation of clinical and genotypic spectrum of patients with...
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