Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC

Detection and validation of novel mutations in MERTK in a simplex case of retinal degeneration using WGS and hiPSC–RPEs model

Published:2020-12-13 Issue:2 Volume:42 Page:189-199
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Biswas Pooja¹²^ORCID,Borooah Shyamanga¹,Matsui Hiroko³,Voronchikhina Marina¹,Zhou Jason¹,Zawaydeh Qais¹,Raghavendra Pongali B.²⁴,Ferreyra Henry¹,Riazuddin S. Amer⁵,Wahlin Karl¹,Frazer Kelly A.³⁶,Ayyagari Radha¹

Affiliation:

1. Shiley Eye Institute University of California San Diego La Jolla California USA

2. REVA University Bengaluru Karnataka India

3. Institute for Genomic Medicine University of California, San Diego La Jolla California USA

4. School of Regenerative Medicine Manipal University‐MAHE Bangalore India

5. Wilmer Eye Institute Johns Hopkins Univesity School of Medicine Baltimore Maryland USA

6. Department of Pediatrics Rady Children's Hospital, Division of Genome Information Sciences San Diego California USA

Funder

Research to Prevent Blindness

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24146

Reference53 articles.

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5. Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations;Berson E. L.;Investigative Ophthalmology and Visual Science,2002

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