Mamta Sohal
YOU?
Author Swipe
View article: Implementation and development of non-medical led Intra-Cardiac Monitoring implantation service
Implementation and development of non-medical led Intra-Cardiac Monitoring implantation service Open
Funding Acknowledgements Type of funding sources: None. Introduction People are living longer, in an ageing population where disease progression can be complex requiring longer-term management. Traditionally, patients are managed using a m…
View article: Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients
Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patients Open
Real-time national survey of COVID-19 in hemoglobinopathy and rare inherited anemia patientsFaced with the rapidly evolving COVID-19 pandemic, in March 2020 the UK Government advocated strict self-isolation ('shielding') to protect extreme…
View article: Missense mutations in the perforin (<i>PRF1</i>) gene as a cause of hereditary cancer predisposition
Missense mutations in the perforin (<i>PRF1</i>) gene as a cause of hereditary cancer predisposition Open
Perforin, a pore-forming toxin released from secretory granules of NK cells and CTLs, is essential for their cytotoxic activity against infected or cancerous target cells. Bi-allelic loss-of-function mutations in the perforin gene are inva…