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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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| Main Authors: | , , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science (PLoS)
2012-01-01
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| Colecção: | PLoS ONE |
| Acesso em linha: | http://europepmc.org/articles/PMC3446876?pdf=render |
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