Loss-of-function mutations in the cathepsin C gene result in periodontal disease and palmoplantar keratosis

Nature Genetics - Tập 23 Số 4 - Trang 421-424 - 1999
Carmel Toomes1, Jacqueline A. James2, Andrew J. Wood1, Chu Wu1, D. McCormick3, Nicholas Lench4, Chelsee Hewitt1, Leanne Moynihan4, Emma Roberts4, C. Geoffrey Woods5, Alexander F. Markham4, Melanie Wong6, Richard P Widmer7, Khaled Abdel Ghaffar8, Michael Pemberton2, Ibtessam R. Hussein9, Samia A. Temtamy9, Robin Davies10, Andrew Read1, Philip Sloan2, Michael J. Dixon2, Nalin Thakker2
1Department of Medical Genetics, St Mary′s Hospital, Manchester, UK
2Department of Dental Medicine and Surgery, Turner Dental School, University of Manchester, Manchester, UK
3Department of Oncology, Queens University of Belfast, Belfast City Hospital Tower, Belfast, UK
4Molecular Medicine Unit, St James's University Hospital, Leeds, UK
5Department of Clinical Genetics, St James's University Hospital, Leeds, UK
6Department of Immunology and Infectious Diseases, New Children's Hospital, Westmead, New South Wales, Australia
7Department of Paediatric Dentistry, Westmead Hospital Dental Clinical School, Westmead, New South Wales, Australia
8Department of Oral Diagnosis and Periodontology, Eins-Shams University, Cairo, Egypt
9Department of Human Genetics, National Research Centre, Cairo, Egypt
10Dental Health Unit, Skelton House, Manchester , UK

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