A Novel Missense SNRNP200 Mutation Associated with Autosomal Dominant Retinitis Pigmentosa in a Chinese Family

The SNRNP200 gene encodes hBrr2, a helicase essential for pre-mRNA splicing. Six mutations in SNRNP200 have recently been discovered to be associated with autosomal dominant retinitis pigmentosa (adRP). In this work, we analyzed a Chinese family with adRP and identified a novel missense mutation in...

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Detalles Bibliográficos
Autores principales: Liu, Tiecheng, Jin, Xin, Zhang, Xuemin, Yuan, Huijun, Cheng, Jing, Lee, Janet, Zhang, Baoquan, Zhang, Maonian, Wu, Jing, Wang, Lijuan, Tian, Geng, Wang, Weifeng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446876/
https://www.ncbi.nlm.nih.gov/pubmed/23029027
http://dx.doi.org/10.1371/journal.pone.0045464

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3446876/
https://www.ncbi.nlm.nih.gov/pubmed/23029027
http://dx.doi.org/10.1371/journal.pone.0045464

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