Novel compound heterozygous nonsense variants, p.L150* and p.Y3565*, of the USH2A gene in a Chinese pedigree are associated with Usher syndrome type IIA

Usher syndrome refers to a group of genetically and clinically heterogeneous autosomal recessive diseases with retinitis pigmentosa (RP) and hearing deficiencies. The association between Usher syndrome-causative genes and resultant Usher syndrome phenotypes in patients are highly variable. In the pr...

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Detalles Bibliográficos
Autores principales: Fu, Jiewen, Cheng, Jingliang, Zhou, Qi, Khan, Md. Asaduzzaman, Duan, Chengxia, Peng, Jiangzhou, Lv, Hongbin, Fu, Junjiang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: D.A. Spandidos 2020
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453661/
https://www.ncbi.nlm.nih.gov/pubmed/32945453
http://dx.doi.org/10.3892/mmr.2020.11400

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7453661/
https://www.ncbi.nlm.nih.gov/pubmed/32945453
http://dx.doi.org/10.3892/mmr.2020.11400

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