Missense variants in the X-linked genePRPS1cause retinal degeneration in females

Author:

Fiorentino Alessia1,Fujinami Kaoru1234,Arno Gavin12,Robson Anthony G.12,Pontikos Nikolas15,Arasanz Armengol Monica2,Plagnol Vincent5,Hayashi Takaaki6,Iwata Takeshi3,Parker Matthew78,Fowler Tom7,Rendon Augusto79,Gardner Jessica C.1,Henderson Robert H.210,Cheetham Michael E.1,Webster Andrew R.12,Michaelides Michel12,Hardcastle Alison J.1ORCID,

Affiliation:

1. UCL Institute of Ophthalmology; London United Kingdom

2. Moorfields Eye Hospital; London United Kingdom

3. National Institute of Sensory Organs; National Hospital Organization; Tokyo Medical Center; Tokyo Japan

4. Department of Ophthalmology; Keio University School of Medicine; Tokyo Japan

5. UCL Genetics Institute; London United Kingdom

6. Department of Ophthalmology; The Jikei University School of Medicine; Tokyo Japan

7. Genomics England; Queen Mary University of London; London United Kingdom

8. Sheffield Diagnostic Genetics Service; Sheffield Children's Hospital; Sheffield United Kingdom

9. Department of Haematology; University of Cambridge; Cambridge United Kingdom

10. Great Ormond Street Hospital for Children; Great Ormond Street; London United Kingdom

Funder

National Institute for Health Research Biomedical Research Centre

Moorfields Eye Charity

the Foundation Fighting Blindness

Retinitis Pigmentosa Fighting Blindness

FFB Career Development Award

Foundation Fighting Blindness Career Development Award

KAKENHI, Grant-in-Aid for Young Scientists

KAKENHI, Fund for the Promotion of Joint International Research

the Japan Agency for Medical Research and Development, the Ministry of Health, Labor and Welfare

The Specified Disease Research Program on Intractable Diseases, The Ministry of Health Labour and Welfare

National Hospital Organization Network Research Fund

JSPS KAKENHI

Fight for Sight UK

The Great Britain Sasakawa Foundation, Butterfield Awards for UK-Japan collaboration in medical research and public health Practice

the National Institute for Health Research Biomedical Research Centre at Moorfields Eye Hospital National Health Service Foundation Trust and UCL Institute of Ophthalmology

the Medical Research Council

The Wellcome Trust, Cancer Research UK

the National Institute for Health Research and NHS England

Publisher

Wiley

Subject

Genetics(clinical),Genetics

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