PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease-Reference-Cited by-同舟云学术

PRPH2 mutation update: In silico assessment of 245 reported and 7 novel variants in patients with retinal disease

Published:2021-09-20 Issue:12 Volume:42 Page:1521-1547
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Peeters Manon H. C. A¹²,Khan Mubeen¹²^ORCID,Rooijakkers Anoek A. M. B¹,Mulders Timo²³,Haer‐Wigman Lonneke¹,Boon Camiel J. F.⁴⁵,Klaver Caroline C. W.²³⁶⁷,Born L. Ingeborgh⁸⁹,Hoyng Carel B.²³,Cremers Frans P. M.¹²,Hollander Anneke I.¹²³,Dhaenens Claire‐Marie¹¹⁰,Collin Rob W. J.¹²^ORCID

Affiliation:

1. Department of Human Genetics Radboud University Medical Center Nijmegen The Netherlands

2. Department of Human Genetics and Ophthalmology Donders Institute for Brain, Cognition and Behaviour Nijmegen The Netherlands

3. Department of Ophthalmology Radboud University Medical Center Nijmegen The Netherlands

4. Department of Ophthalmology Leiden University Medical Center Leiden The Netherlands

5. Department of Ophthalmology Amsterdam UMC, Academic Medical Center Amsterdam The Netherlands

6. Department of Ophthalmology Erasmus University Medical Centre Rotterdam The Netherlands

7. Institute of Molecular and Clinical Ophthalmology Basel Switzerland

8. The Rotterdam Eye Hospital Rotterdam The Netherlands

9. Rotterdam Ophthalmic Institute Rotterdam The Netherlands

10. Department of Biochemistry and Molecular Biology Univ. Lille, Inserm, CHU Lille, U1172‐LilNCog‐Lille Neuroscience & Cognition Lille France

Funder

Radboud Universitair Medisch Centrum

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24275

Reference210 articles.

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4. A NOVEL MISSENSE MUTATION IN THE RDS/PERIPHERIN GENE ASSOCIATED WITH RETINAL PATTERN DYSTROPHY

5. Molecular Diagnostic Testing by eyeGENE: Analysis of Patients With Hereditary Retinal Dystrophy Phenotypes Involving Central Vision Loss

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