Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20-Reference-Cited by-同舟云学术

Spectrum of pathogenic variants and founder effects in amelogenesis imperfecta associated with MMP20

Published:2021-03-06 Issue:5 Volume:42 Page:567-576
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Nikolopoulos Georgios¹²^ORCID,Smith Claire E. L.¹^ORCID,Poulter James A.¹^ORCID,Murillo Gina³^ORCID,Silva Sandra⁴,Lamb Teresa⁵,Berry Ian R.⁶,Brown Catriona J.⁷,Day Peter F.⁸⁹^ORCID,Soldani Francesca⁹,Al‐Bahlani Suhaila¹⁰,Harris Sarah A.¹¹¹²^ORCID,O'Connell Mary J.¹³¹⁴^ORCID,Inglehearn Chris F.¹^ORCID,Mighell Alan J.²^ORCID

Affiliation:

1. Division of Molecular Medicine, Leeds Institute of Medical Research University of Leeds Leeds UK

2. Department of Oral Biology, School of Dentistry, St James's University Hospital University of Leeds Leeds UK

3. School of Dentistry, Universidad de Costa Rica Ciudad Universitaria Rodrigo Facio San Pedro Montes De Oca Costa Rica

4. Cellular and Molecular Biology Centre (CBCM), Universidad de Costa Rica Ciudad Universitaria Rodrigo Facio San Pedro Montes De Oca Costa Rica

5. Oxford University Hospitals NHS Foundation Trust Oxford UK

6. Leeds Genetics Laboratory St James's University Hospital Leeds UK

7. Birmingham Dental Hospital Birmingham UK

8. Department of Paediatric Dentistry, Leeds Dental Institute University of Leeds Leeds UK

9. Community Dental Service, Horton Park Health Centre Bradford District Care NHS Foundation Trust Bradford UK

10. Dental & O.M.F.S Clinic Al Nahdha Hospital, Ministry of Health Muscat Oman

11. School of Physics University of Leeds Leeds UK

12. Astbury Centre for Structural Molecular Biology University of Leeds Leeds UK

13. School of Biology, Faculty of Biological Sciences University of Leeds Leeds UK

14. School of Life Sciences, Faculty of Medicine and Health Sciences University of Nottingham Nottingham UK

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24187

Reference29 articles.

1. Bioinformatic Comparison of Structures and Homology-Models of Matrix Metalloproteinases

2. Catalytic domain of MMP20 (Enamelysin) - The NMR structure of a new matrix metalloproteinase

3. Dental Enamel Development: Proteinases and Their Enamel Matrix Substrates

4. Predicting the Functional Effect of Amino Acid Substitutions and Indels

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