Novel Missense and Splice Site Mutations in USH2A, CDH23, PCDH15, and ADGRV1 Are Associated With Usher Syndrome in Lebanon

The purpose of this study was to expand the mutation spectrum by searching the causative mutations in nine Lebanese families with Usher syndrome (USH) using whole-exome sequencing. The pathogenicity of candidate mutations was first evaluated according to their frequency, conservation, and in silico...

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Detalles Bibliográficos
Autores principales: Jaffal, Lama, Akhdar, Hanane, Joumaa, Hawraa, Ibrahim, Mariam, Chhouri, Zahraa, Assi, Alexandre, Helou, Charles, Lee, Hane, Seo, Go Hun, Joumaa, Wissam H., El Shamieh, Said
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149366/
https://www.ncbi.nlm.nih.gov/pubmed/35651951
http://dx.doi.org/10.3389/fgene.2022.864228

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9149366/
https://www.ncbi.nlm.nih.gov/pubmed/35651951
http://dx.doi.org/10.3389/fgene.2022.864228

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