Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

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第一作者： Ryan M,Baxley

第一单位： Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA.

作者： Ryan M,Baxley ^[1] ; Wendy,Leung ^[1] ; Megan M,Schmit ^[1] ; Jacob Peter,Matson ^[2] ; Lulu,Yin ^[1] ; Marissa K,Oram ^[1] ; Liangjun,Wang ^[1] ; John,Taylor ^[3] ; Jack,Hedberg ^[1] ; Colette B,Rogers ^[1] ; Adam J,Harvey ^[1] ; Debashree,Basu ^[1] ; Jenny C,Taylor ^[4] ; Alistair T,Pagnamenta ^[5] ; Helene,Dreau ^[4] ; Jude,Craft ^[5] ; Elizabeth,Ormondroyd ^[6] ; Hugh,Watkins ^[7] ; Eric A,Hendrickson ^[8] ; Emily M,Mace ^[8] ; Jordan S,Orange ^[1] ; Hideki,Aihara ^[9] ; Grant S,Stewart ^[9] ; Edward,Blair ^[1] ; Jeanette Gowen,Cook ^[10] ; Anja-Katrin,Bielinsky ^[7]

作者单位： Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA. ^[1] Department of Biochemistry and Biophysics, University of North Carolina, Chapel Hill, NC, 27599, USA. ^[2] Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. ^[3] Wellcome Centre Human Genetics, University of Oxford, Oxford, OX3 7BN, UK. ^[4] Oxford NIHR Biomedical Research Centre, Oxford, OX3 7BN, UK. ^[5] Department of Haematology, University of Oxford, Oxford, OX3 7BN, UK. ^[6] Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, UK. ^[7] Division of Cardiovascular Medicine, Radcliffe Department of Medicine, University of Oxford, Oxford, UK. ^[8] Vagelos College of Physicians and Surgeons, Columbia University, New York, NY, 10032, USA. ^[9] Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, B15 2TT, UK. ^[10] Department of Biochemistry, Molecular Biology, and Biophysics, University of Minnesota, Minneapolis, MN, 55455, USA. bieli003@umn.edu. ^[11]