Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility |
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| Authors: | John A. McGrath,Kristina L. Stone,Rumena Begum,Michael A. Simpson,Patricia J. Dopping-Hepenstal,Lu Liu,James R. McMillan,Andrew P. South,Celine Pourreyron,W.H. Irwin McLean,Anna E. Martinez,Jemima E. Mellerio,Maddy Parsons |
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| Affiliation: | 1 St John''s Institute of Dermatology, King''s College London (Guy''s Campus), London SE1 9RT, UK;2 Department of Medical and Molecular Genetics, King''s College London (Guy''s Campus), London SE1 9RT, UK;3 Randall Division of Cell and Molecular Biophysics, King''s College London (Guy''s Campus), London SE1 9RT, UK;4 GSTS Pathology, St Thomas'' Hospital, London SE1 7EH, UK;5 Division of Cancer Research, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee DD1 5EH, UK;6 Dermatology and Genetic Medicine, Colleges of Life Sciences and Medicine, Dentistry & Nursing, University of Dundee, Dundee DD1 5EH, UK;7 Department of Paediatric Dermatology, Great Ormond Street Hospital for Children NHS Trust, London WC1N 3JH, UK |
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