A new novel nonsense mutation in AIPL1 in a LCA4 family-Reference-Cited by-同舟云学术

A new novel nonsense mutation in AIPL1 in a LCA4 family

Published:2019-07-04 Issue:4 Volume:40 Page:380-384
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Wan Ling¹,Xiang Li²,Wang Haixin³,Shi Yi³,Jiang Dan³,Hao Fang³,Huang Lulin¹³

Affiliation:

1. Department of Ophthalmology, Sichuan Provincial People’s Hospital, University of Electronic Science and Technology of China, Chengdu, China

2. Affiliated Sichuan Ba-Yi Rehabilitation Center of Chengdu University of TCM (Sichuan Provincial Rehabilitation Hospital), Chengdu, China

3. Department of Ophthalmology, The Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People’s Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China

Publisher

Informa UK Limited

Subject

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

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2019.1666878

Reference13 articles.

1. Leber congenital amaurosis: Genes, proteins and disease mechanisms

2. Sacristan-Reviriego A, Bellingham J, Prodromou C, Boehm AN, Aichem A, Kumaran N, Bainbridge J, Michaelides M, van der Spuy J. The integrity and organization of the human AIPL1 functional domains is critical for its role as a HSP90-dependent co-chaperone for rod PDE6. Human Molecular Genetics. 2018; 27(7):1309–1309

3. An overview of leber congenital amaurosis: a model to understand human retinal development

4. Mutations in a new photoreceptor-pineal gene on 17p cause Leber congenital amaurosis

5. Prevalence of AIPL1 Mutations in Inherited Retinal Degenerative Disease