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Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20.
Nikolopoulos, Georgios; Smith, Claire E L; Poulter, James A; Murillo, Gina; Silva, Sandra; Lamb, Teresa; Berry, Ian R; Brown, Catriona J; Day, Peter F; Soldani, Francesca; Al-Bahlani, Suhaila; Harris, Sarah A; O'Connell, Mary J; Inglehearn, Chris F; Mighell, Alan J.
Affiliation
  • Nikolopoulos G; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Smith CEL; Department of Oral Biology, School of Dentistry, St James's University Hospital, University of Leeds, Leeds, UK.
  • Poulter JA; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Murillo G; Division of Molecular Medicine, Leeds Institute of Medical Research, University of Leeds, Leeds, UK.
  • Silva S; School of Dentistry, Universidad de Costa Rica, Ciudad Universitaria Rodrigo Facio, San Pedro Montes De Oca, Costa Rica.
  • Lamb T; Cellular and Molecular Biology Centre (CBCM), Universidad de Costa Rica, Ciudad Universitaria Rodrigo Facio, San Pedro Montes De Oca, Costa Rica.
  • Berry IR; Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
  • Brown CJ; Leeds Genetics Laboratory, St James's University Hospital, Leeds, UK.
  • Day PF; Birmingham Dental Hospital, Birmingham, UK.
  • Soldani F; Department of Paediatric Dentistry, Leeds Dental Institute, University of Leeds, Leeds, UK.
  • Al-Bahlani S; Community Dental Service, Horton Park Health Centre, Bradford District Care NHS Foundation Trust, Bradford, UK.
  • Harris SA; Community Dental Service, Horton Park Health Centre, Bradford District Care NHS Foundation Trust, Bradford, UK.
  • O'Connell MJ; Dental & O.M.F.S Clinic, Al Nahdha Hospital, Ministry of Health, Muscat, Oman.
  • Inglehearn CF; School of Physics, University of Leeds, Leeds, UK.
  • Mighell AJ; Astbury Centre for Structural Molecular Biology, University of Leeds, Leeds, UK.
Hum Mutat ; 42(5): 567-576, 2021 05.
Article in En | MEDLINE | ID: mdl-33600052

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Matrix Metalloproteinase 20 / Amelogenesis Imperfecta Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: United kingdom Country of publication: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Matrix Metalloproteinase 20 / Amelogenesis Imperfecta Type of study: Risk_factors_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2021 Document type: Article Affiliation country: United kingdom Country of publication: United States