ArticleInternational journal of ophthalmology2020
Exome sequencing analysis identifies novel homozygous mutation in
Article in International journal of ophthalmology, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed.
- Genome-wide analyses of member identification, expression pattern, and protein-protein interaction of EPF/EPFL gene family in Gossypium.BMC plant biology · 2024Article
- Article
- Genome-Wide Identification and Functional Analysis ofPlants (Basel, Switzerland) · 2023Article
- Insufficient Dose of ERCC8 Protein Caused by a Frameshift Mutation Is Associated With Keratoconus With Congenital Cataracts.Investigative ophthalmology & visual science · 2022Article
- Emerging roles of circRNAs in the pathological process of myocardial infarction.Molecular therapy. Nucleic acids · 2021Review
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Authors and funding
5 authors.
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Abstract
aimTo identify the disease-associated mutations in a Chinese Stargardt disease (STGD) family, extend the existing spectrum of disease-causing mutations and further define the genotype-phenotype correlations.
methodsA Chinese STGD family and 200 normal controls were collected. Whole exome sequencing (WES) and bioinformatics analysis were performed to find the pathogenic gene mutation. Physico-chemical parameters of mutant and wildtype proteins were computed by ProtParam tool. Domains analysis was performed by SMART online software. HOPE online software was used to analyze the structural effects of mutation. Immunofluorescence, quantitative real-time polymerase chain reaction and Western blotting were used for expression analysis.
resultsUsing WES, a novel homozygous mutation (NM_000350: c.G3190C, p.G1064R) in
conclusionWe define a novel pathogenic mutation (c.G3190C of
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