Loss of FOCAD, operating via the SKI messenger RNA surveillance pathway, causes a pediatric syndrome with liver cirrhosis - Nature Genetics

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Mutations in novel gene found to be responsible for severe liverdisease in children AstarHQ NatureGenet

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We are grateful to the families of affected individuals for their participation and kind cooperation in this study. We are also grateful to all members of the Reversade laboratory for constructive discussions and suggestions. We thank R. Weber (Hannover Medical School, Germany) for providing the FOCAD expression construct used for our transient transfections, as well as A. van Hoof (University of Texas Health Science Center at Houston, Texas, USA) and J.

Department of Pediatrics, Yong Loo Lin School of Medicine, National University of Singapore, Singapore, SingaporeSection of Pediatrics-Clinical Genetics and Metabolism, Children’s Hospital Colorado, Aurora, CO, USADepartment of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard Health Affairs, Riyadh, Saudi ArabiaCollege of Medicine, King Saud bin Abdulaziz University for Health Sciences, King Abdulaziz Medical...

Singapore Phenome Center, Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, SingaporeGastropediatrics Department, Nantes University Hospital Center, Nantes, FranceMadeleine JoubertHulya Kayserili & Bruno Reversade

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