Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients-Reference-Cited by-同舟云学术

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Novel homozygous loss-of-function mutations in RP1 and RP1L1 genes in retinitis pigmentosa patients

Published:2019-11-02 Issue:6 Volume:40 Page:507-513
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Albarry Maan Abdullah¹,Hashmi Jamil Amjad²,Alreheli Ahdab Qasem¹,Albalawi Alia M.²,Khan Bushra³,Ramzan Khushnooda⁴,Basit Sulman²

Affiliation:

1. Department of Ophthalmology, College of Medicine, Taibah University Almadinah, Medina, Saudi Arabia

2. Center for Genetics and Inherited Diseases, Taibah University Almadinah, Medina, Saudi Arabia

3. Department of Biochemistry, Abdul Wali Khan University Mardan, KPK, Pakistan

4. Department of Genetics, Research Centre, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1703014

Reference53 articles.

1. Retinitis pigmentosa

2. The epidemiology of retinitis pigmentosa in Denmark

3. Confirmation of the Role ofDHX38in the Etiology of Early-Onset Retinitis Pigmentosa

4. Retinitis pigmentosa and allied conditions today: a paradigm of translational research

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2. Revisiting molecular diagnosis in a family with retinitis pigmentosa: integrating deep phenotyping and bioinformatic analysis;Ophthalmic Genetics;2024-05-20

3. Retinitis pigmentosa‐1 due to an RP1 mutation in a consanguineous Iranian family: Report of a novel mutation;Clinical Case Reports;2024-03

4. Transpalpebral electrical stimulation for the treatment of retinitis pigmentosa: study protocol for a series of N-of-1 single-blind, randomized controlled trial;Trials;2024-01-27

5. New recessive compound heterozygous variants of RP1L1 in RP1L1 maculopathy;International Journal of Ophthalmology;2024-01-18

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