Portal de Periódicos da CAPES

Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis

2007; Oxford University Press; Volume: 158; Issue: 3 Linguagem: Inglês

10.1111/j.1365-2133.2007.08277.x

1365-2133

Anna Thomas, Claire Sinclair, Nadiya Mahmud, Thomas Cullup, Jemima E. Mellerio, John Harper, Beverly A. Dale, Claude Turc‐Carel, Daniel Hohl, John A. McGrath, Anders Vahlquist, Maritta Hellström-Pigg, Agneta Gånemo, K. Metcalfe, Charles A. Mein, Edel A. O’Toole, David P. Kelsell,

RNA regulation and disease

Journal Article Novel and recurring ABCA12 mutations associated with harlequin ichthyosis: implications for prenatal diagnosis Get access A.C. Thomas, A.C. Thomas Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar C. Sinclair, C. Sinclair Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar N. Mahmud, N. Mahmud Genome Centre, Barts and the London, Queen Mary, University of London, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar T. Cullup, T. Cullup Genome Centre, Barts and the London, Queen Mary, University of London, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar J.E. Mellerio, J.E. Mellerio St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar J. Harper, J. Harper Paediatric Dermatology Department, Great Ormond Street Hospital for Children, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar B.A. Dale, B.A. Dale Departments of Oral Biology, Biochemistry, Medicine/Dermatology and Laboratory Medicine, University of Washington, Seattle, WA, U.S.A. Search for other works by this author on: Oxford Academic Google Scholar C. Turc‐Carel, C. Turc‐Carel Department of Genetics, Centre Hospitalier Universitaire de Nice, Nice, France Search for other works by this author on: Oxford Academic Google Scholar D. Hohl, D. Hohl Department of Dermatology, Hôpital de Beaumont, Lausanne, Switzerland Search for other works by this author on: Oxford Academic Google Scholar J.A. McGrath, J.A. McGrath St John's Institute of Dermatology, Guy's and St Thomas' NHS Foundation Trust, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar ... Show more A. Vahlquist, A. Vahlquist Genodermatosis Centre, Departments of Medical Sciences and Genetics, Uppsala University, Uppsala, Sweden Search for other works by this author on: Oxford Academic Google Scholar M. Hellstrom‐Pigg, M. Hellstrom‐Pigg Genodermatosis Centre, Departments of Medical Sciences and Genetics, Uppsala University, Uppsala, Sweden Search for other works by this author on: Oxford Academic Google Scholar A. Ganemo, A. Ganemo Genodermatosis Centre, Departments of Medical Sciences and Genetics, Uppsala University, Uppsala, Sweden Search for other works by this author on: Oxford Academic Google Scholar K. Metcalfe, K. Metcalfe Academic Unit of Medical Genetics and Regional Genetics Service, Central Manchester and Manchester Children's University Hospitals Trust, Manchester, U.K. Search for other works by this author on: Oxford Academic Google Scholar C.A. Mein, C.A. Mein Genome Centre, Barts and the London, Queen Mary, University of London, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar E.A O'Toole, E.A O'Toole Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, U.K. Search for other works by this author on: Oxford Academic Google Scholar D.P. Kelsell D.P. Kelsell Centre for Cutaneous Research, Institute of Cell and Molecular Science, Queen Mary's School of Medicine and Dentistry, Queen Mary, University of London, London, U.K. Correspondence: David Kelsell. E‐mail: d.p.kelsell@qmul.ac.uk Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 158, Issue 3, 1 March 2008, Pages 611–613, https://doi.org/10.1111/j.1365-2133.2007.08277.x Published: 01 March 2008