Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing-Reference-Cited by-同舟云学术

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Frequent mutations of RetNet genes in eoHM: Further confirmation in 325 probands and comparison with late-onset high myopia based on exome sequencing

Published:2018-06 Issue: Volume:171 Page:76-91
ISSN:0014-4835
Container-title:Experimental Eye Research
language:en
Short-container-title:Experimental Eye Research

Author:

Zhou Lin,Xiao Xueshan,Li Shiqiang,Jia Xiaoyun,Zhang Qingjiong

Funder

Natural Science Foundation of Guangdong Province

Key Projects of Guangzhou

National Natural Science Foundation of China

Fundamental Research Funds of the State Key Laboratory of Ophthalmology

Publisher

Elsevier BV

Subject

Cellular and Molecular Neuroscience,Sensory Systems,Ophthalmology

Reference84 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat. Methods,2010

2. Mutations in LRPAP1 are associated with severe myopia in humans;Aldahmesh;Am. J. Hum. Genet.,2013

3. Splicing mutations of 54-bp exons in the COL11A1 gene cause Marshall syndrome, but other mutations cause overlapping Marshall/Stickler phenotypes;Annunen;Am. J. Hum. Genet.,1999

4. Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene;Ballo;Am. J. Med. Genet.,1998

5. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness;Bech-Hansen;Nat. Genet.,1998

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3. Screening Mutations of the Monogenic Syndromic High Myopia by Whole Exome Sequencing From MAGIC Project;Investigative Opthalmology & Visual Science;2024-02-05

4. Clinical and genetic risk factors underlying severe consequence identified in 75 families with unilateral high myopia;Journal of Translational Medicine;2024-01-19

5. HIGH MYOPIA IS COMMON IN PATIENTS WITH X-LINKED RETINOPATHIES;Retina;2024-01

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