Hereditary Mucin Deficiency Caused by Biallelic Loss of Function of MUC5B

Author:

Costain Gregory123,Liu Zhen2456,Mennella Vito7,Radicioni Giorgia89,Goczi Adrienn N.45,Albulescu Alexandra45,Walker Susan210,Ngan Bo11,Manson David1213,Vali Reza1213,Khan Meraj14,Palaniyar Nades1415,Hill David B.816,Hall David A.1718,Marshall Christian R.101915,Knowles Michael820,Zariwala Maimoona A.89,Kesimer Mehmet89,Dell Sharon D.2132223ORCID

Affiliation:

1. Division of Clinical and Metabolic Genetics,

2. Genetics and Genome Biology, Research Institute,

3. Department of Paediatrics,

4. Cell Biology Program,

5. Biochemistry Department,

6. Division of Life Science, The Hong Kong University of Science and Technology, Hong Kong, China;

7. Clinical & Experimental Sciences Academic Unit Biomedical Research Center, National Health Research Institute, University of Southampton, Southampton, United Kingdom;

8. Marsico Lung Institute,

9. Department of Pathology and Laboratory Medicine,

10. The Centre for Applied Genomics,

11. Division of Pathology, Department of Paediatric Laboratory Medicine,

12. Department of Diagnostic Imaging,

13. Department of Medical Imaging,

14. Translational Medicine, Research Institute,

15. Department of Laboratory Medicine and Pathobiology,

16. Department of Physics and Astronomy, and

17. Department of Medicine, and

18. Department of Respirology, St. Michael’s Hospital, Toronto, Ontario, Canada; and

19. Genome Diagnostics, Department of Paediatric Laboratory Medicine, and

20. Division of Pulmonary Diseases, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina;

21. Child Health Evaluative Sciences, The Hospital for Sick Children, Toronto, Ontario, Canada;

22. Department of Pediatrics & Institute of Health Policy, Management and Evaluation, University of Toronto, Toronto, Ontario, Canada;

23. Department of Pediatrics, University of British Columbia, Vancouver, British Columbia, Canada

Funder

National Heart, Lung, and Blood Institute

University of Toronto McLaughlin Centre

SickKids Foundation

Publisher

American Thoracic Society

Subject

Critical Care and Intensive Care Medicine,Pulmonary and Respiratory Medicine

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