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Mutation screening of the USH2A gene in retinitis pigmentosa and USHER patients in a Han Chinese population
OBJECTIVES: USH2A encodes for usherin, a basement membrane protein in the inner ear and retina. USH2A can cause retinitis pigmentosa (RP) with or without hearing loss. The aim of this study was to detect USH2A mutations in a Chinese cohort of 75 small RP families and 10 Usher syndrome families. METH...
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| Publicado no: | Eye (Lond) |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6189035/ https://ncbi.nlm.nih.gov/pubmed/29899460 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-018-0130-3 |
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