Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.

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作者： Dale,Bryant ^[1] ; Marian,Seda ^[1] ; Emma,Peskett ^[1] ; Constance,Maurer ^[1] ; Gideon,Pomeranz ^[1] ; Marcus,Ghosh ^[2] ; Thomas A,Hawkins ^[2] ; James,Cleak ^[3] ; Sanchari,Datta ^[4] ; Hanaa,Hariri ^[4] ; Kaitlyn M,Eckert ^[5] ; Daniyal J,Jafree ^[6] ; Claire,Walsh ^[1] ; Charalambos,Demetriou ^[7] ; Miho,Ishida ^[1] ; Cristina,Alemán-Charlet ^[1] ; Letizia,Vestito ^[1] ; Rimante,Seselgyte ^[1] ; Jeffrey G,McDonald ^[1] ; Maria,Bitner-Glindzicz ^[5] ; Myriam,Hemberger ^[6] ; Jason,Rihel ^[1] ; Lydia,Teboul ^[8] ; W Mike,Henne ^[2] ; Dagan,Jenkins ^[3] ; Gudrun E,Moore ^[4] ; Philip,Stanier ^[1]

作者单位： Genetics and Genomic Medicine, UCL GOS Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. ^[1] Department of Cell and Developmental Biology, University College London, London, WC1E 6BT, UK. ^[2] The Mary Lyon Centre, Medical Research Council Harwell Institute, Harwell Campus, Didcot, OX11 0RD, Oxon, UK. ^[3] Department of Cell Biology, UT Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX, 75390, USA. ^[4] Center for Human Nutrition, UT Southwestern Medical Center, 6000 Harry Hines Blvd, Dallas, TX, 75390, USA. ^[5] Department of Molecular Genetics, UT Southwestern Medical Center, 6000 Harry Hines Boulevard, Dallas, TX, 75390, USA. ^[6] Centre for Advanced Biomedical Imaging, Paul O'Gorman Building, University College London, 72 Huntley Street, London, WC1E 6DD, UK. ^[7] Department of Biochemistry and Molecular Biology, Cumming School of Medicine, Alberta Children's Hospital Research Institute, University of Calgary, Alberta, T2N 1N4, Canada. ^[8] Genetics and Genomic Medicine, UCL GOS Institute of Child Health, 30 Guilford Street, London, WC1N 1EH, UK. p.stanier@ucl.ac.uk. ^[9]