Clinical and Molecular Characterization ofPROM1-Related Retinal Degeneration-Reference-Cited by-同舟云学术

Clinical and Molecular Characterization ofPROM1-Related Retinal Degeneration

Published:2019-06-14 Issue:6 Volume:2 Page:e195752
ISSN:2574-3805
Container-title:JAMA Network Open
language:en
Short-container-title:JAMA Netw Open

Author:

Cehajic-Kapetanovic Jasmina¹²,Birtel Johannes³,McClements Michelle E.¹,Shanks Morag E.⁴,Clouston Penny⁴,Downes Susan M.¹²,Charbel Issa Peter¹²³,MacLaren Robert E.¹²

Affiliation:

1. Nuffield Laboratory of Ophthalmology, Department of Clinical Neurosciences, Oxford University, Oxford, United Kingdom

2. Oxford Eye Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom

3. Department of Ophthalmology, University of Bonn, Bonn, Germany

4. Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom

Publisher

American Medical Association (AMA)

Subject

General Medicine

Link

http:///jamanetworkopen/article-pdf/2/6/e195752/17656924/cehajickapetanovic_2019_oi_190234.pdf

Reference37 articles.

1. Clinical and genetic characteristics of 251 consecutive patients with macular and cone/cone-rod dystrophy.;Birtel;Sci Rep,2018

2. A frameshift mutation in prominin (mouse)-like 1 causes human retinal degeneration.;Maw;Hum Mol Genet,2000

3. Severe retinitis pigmentosa mapped to 4p15 and associated with a novel mutation in the PROM1 gene.;Zhang;Hum Genet,2007

4. Whole exome sequencing in Thai patients with retinitis pigmentosa reveals novel mutations in six genes.;Jinda;Invest Ophthalmol Vis Sci,2014

5. Next-generation sequencing-based molecular diagnosis of 82 retinitis pigmentosa probands from Northern Ireland.;Zhao;Hum Genet,2015

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