Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia-Reference-Cited by-同舟云学术

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Synonymous Variant in the CHM Gene Causes Aberrant Splicing in Choroideremia

Published:2020-02-25 Issue:2 Volume:61 Page:38
ISSN:1552-5783
Container-title:Investigative Opthalmology & Visual Science
language:en
Short-container-title:Invest. Ophthalmol. Vis. Sci.

Author:

da Palma Mariana Matioli¹,Motta Fabiana Louise¹,Gomes Caio Perez²,Salles Mariana Vallim¹,Pesquero João Bosco²,Sallum Juliana Maria Ferraz¹³

Affiliation:

1. Department of Ophthalmology, Federal University of São Paulo, São Paulo, Brazil

2. Department of Biophysics, Federal University of São Paulo, São Paulo, Brazil

3. Instituto de Genética Ocular, São Paulo, Brazil

Publisher

Association for Research in Vision and Ophthalmology (ARVO)

Subject

General Medicine

Cited by 4 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. Reclassification of a TMC1 synonymous substitution as a variant disrupting splicing regulatory elements associated with recessive hearing loss;European Journal of Human Genetics;2021-12-03

2. Splicing mutations in inherited retinal diseases;Progress in Retinal and Eye Research;2021-01

3. A novel SVA retrotransposon insertion in the CHM gene results in loss of REP-1 causing choroideremia;Ophthalmic Genetics;2020-05-22

4. Whole exome sequencing of a family revealed a novel variant in the CHM gene, c.22delG p.(Glu8Serfs*4), which co-segregated with choroideremia;Bioscience Reports;2020-05

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