Comprehensive functional characterization of a novel ANO6 variant in a new patient with Scott syndrome.

Autor: Montague SJ; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Price J; Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Pennycott K; Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Pavey NJ; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Martin EM; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Thirlwell I; Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Kemble S; Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Monteiro C; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Redmond-Motteram L; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Lawson N; Haemophilia Unit, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Reynolds K; Haemophilia Unit, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Fratter C; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Bignell P; Oxford Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Groenheide A; Synapse Research Institute, Maastricht, the Netherlands., Huskens D; Synapse Research Institute, Maastricht, the Netherlands., de Laat B; Synapse Research Institute, Maastricht, the Netherlands., Pike JA; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; Centre of Membrane Proteins and Receptors, Universities of Birmingham and Nottingham, the Midlands, United Kingdom., Poulter NS; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; Centre of Membrane Proteins and Receptors, Universities of Birmingham and Nottingham, the Midlands, United Kingdom., Thomas SG; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; Centre of Membrane Proteins and Receptors, Universities of Birmingham and Nottingham, the Midlands, United Kingdom., Lowe GC; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom; Comprehensive Care Haemophilia Centre, University Hospital Birmingham NHS Foundation Trust, Birmingham, United Kingdom., Lancashire J; Haemophilia Unit, Birmingham Children's Hospital, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, United Kingdom., Harrison P; Institute of Inflammation and Ageing, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom., Morgan NV; Institute of Cardiovascular Sciences, College of Medical and Dental Sciences, University of Birmingham, Birmingham, United Kingdom. Electronic address: N.V.Morgan@bham.ac.uk.

Publikováno v: Journal of thrombosis and haemostasis : JTH [J Thromb Haemost] 2024 Aug; Vol. 22 (8), pp. 2281-2293. Date of Electronic Publication: 2024 Mar 15.