Compound Heterozygosity of Two Novel Truncation Mutations inRP1Causing Autosomal Recessive Retinitis Pigmentosa-Reference-Cited by-同舟云学术

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Compound Heterozygosity of Two Novel Truncation Mutations inRP1Causing Autosomal Recessive Retinitis Pigmentosa

Published:2010-04-01 Issue:4 Volume:51 Page:2236
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

Chen Li Jia,Lai Timothy Y. Y.,Tam Pancy O. S.,Chiang Sylvia W. Y.,Zhang Xin,Lam Shi,Lai Ricky Y. K.,Lam Dennis S. C.,Pang Chi Pui

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 48 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Late-Onset Slowly Progressing Cone/Macular Dystrophy in Patients With the Biallelic Hypomorphic Variant p.Arg1933Ter in RP1;Translational Vision Science & Technology;2024-08-01

2. A Novel RP1 Truncating mutation That Causes Autosomal Dominant Retinitis Pigmentosa (ADRP);Advances in Ophthalmology Practice and Research;2024-08

3. Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress;Biomolecules;2024-07-25

4. Datasets-Based IMPDH1 Revisited: Heterozygous Missense Variants for Dominant Retinitis Pigmentosa While Truncation Variants Are Likely Non-Pathogenic;Current Eye Research;2024-04-11

5. Outer retinal microcavitations in Retinitis Pigmentosa: a novel OCT finding common in RP1-related retinopathy.;Retina;2024-03-12

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