Seven novel variants expand the spectrum of RPE65-related Leber congenital amaurosis in the Chinese population

PURPOSE: To screen RPE65 in 187 families with Leber congenital amaurosis (LCA). METHODS: Sanger sequencing and/or targeted exome sequencing was employed to identify mutations in the RPE65 gene, and intrafamilial cosegregation analysis if DNA was available. In silico analyses and splicing assay were...

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Detalles Bibliográficos
Autores principales: Zhong, Zilin, Rong, Feng, Dai, Yinghui, Yibulayin, Alakezi, Zeng, Lin, Liao, Jian, Wang, Liefeng, Huang, Zhihua, Zhou, Zhenping, Chen, Jianjun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2019
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441358/
https://www.ncbi.nlm.nih.gov/pubmed/30996589

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441358/
https://www.ncbi.nlm.nih.gov/pubmed/30996589

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