Mutations causing premature termination codons discriminate and generate cellular and clinical variability in HHT.

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作者： Maria E,Bernabéu-Herrero ^[1] ; Dilipkumar,Patel ^[1] ; Adrianna,Bielowka ^[1] ; JiaYi,Zhu ^[2] ; Kinshuk,Jain ^[1] ; Ian S,Mackay ^[3] ; Patricia,Chaves Guerrero ^[4] ; Giulia,Emanuelli ^[2] ; Luca,Jovine ^[5] ; Michela,Noseda ^[4] ; Stefan J,Marciniak ^[6] ; Micheala A,Aldred ^[7] ; Claire L,Shovlin ^[8]

作者单位： National Heart and Lung Institute, Imperial College London, London, United Kingdom.;NIHR Imperial Biomedical Research Centre, London, United Kingdom. ^[1] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom. ^[2] Ear, Nose and Throat Surgery, Charing Cross and Royal Brompton Hospitals, London, United Kingdom. ^[3] National Heart and Lung Institute, Imperial College London, London, United Kingdom. ^[4] Department of Biosciences and Nutrition, Karolinska Institutet, Huddinge, Sweden. ^[5] Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.;Royal Papworth Hospital NHS Foundation Trust, Cambridge, United Kingdom. ^[6] Department of Medicine, Indiana University School of Medicine, Indianapolis, IN. ^[7] National Heart and Lung Institute, Imperial College London, London, United Kingdom.;NIHR Imperial Biomedical Research Centre, London, United Kingdom.;Specialist Medicine, Imperial College Healthcare NHS Trust, London, United Kingdom. ^[8]