Novel insights into the molecular pathogenesis of CYP 4V2 ‐associated Bietti's retinal dystrophy-Reference-Cited by-同舟云学术

Novel insights into the molecular pathogenesis of CYP 4V2 ‐associated Bietti's retinal dystrophy

Published:2014-09-15 Issue:1 Volume:3 Page:14-29
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Astuti Galuh D. N.¹²³,Sun Vincent⁴,Bauwens Miriam⁵,Zobor Ditta⁶,Leroy Bart P.⁵⁷,Omar Amer⁴⁸,Jurklies Bernhard⁹,Lopez Irma⁴,Ren Huanan⁴,Yazar Volkan¹,Hamel Christian¹⁰,Kellner Ulrich¹¹,Wissinger Bernd⁶,Kohl Susanne⁶,De Baere Elfride⁵,Collin Rob W. J.¹²,Koenekoop Robert K.⁴

Affiliation:

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

2. Radboud Institute for Molecular Life Sciences Radboud University Medical Centre Nijmegen The Netherlands

3. Division of Human Genetics Center for Biomedical Research Faculty of Medicine Diponegoro University Semarang Indonesia

4. McGill Ocular Genetics Laboratory Departments of Paediatric Surgery, Human Genetics and Ophthalmology Montreal Children's Hospital McGill University Health Centre Montreal Quebec Canada

5. Center for Medical Genetics Ghent University Hospital Ghent Belgium

6. Institute for Ophthalmic Research Centre for Ophthalmology University of Tübingen Tübingen Germany

7. Department of Ophthalmology Ghent University Hospital Ghent Belgium

8. Moorfields Eye Hospital London United Kingdom

9. Department of Ophthalmology University of Essen Essen Germany

10. Institute of Neurosciences of Montpellier Hôpital Saint Eloi Montpellier France

11. Rare Retinal Disease Center AugenZentrum Siegburg MVZ ADTC Siegburg GmbH Siegburg Germany

Funder

Foundation Fighting Blindness

Fonds de Recherche du Québec - Santé

Canadian Institutes of Health Research

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.109

Reference49 articles.

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4. Optical coherence tomographic findings of crystal deposits in the lens and cornea in Bietti crystalline corneoretinopathy associated with mutation in the CYP4V2 gene

5. High-Resolution Homozygosity Mapping Is a Powerful Tool to Detect Novel Mutations Causative of Autosomal Recessive RP in the Dutch Population

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