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Molecular genetic and clinical evaluation of three Chinese families with X-linked ocular albinism
X-linked ocular albinism (OA1) is an X-linked inherited disease characterized by hypopigmentation of the fundus and nystagmus. Our study performed mutation analysis of the G protein-coupled receptor 143 gene (GPR143) and assessed the clinical characteristics of OA1 in three Chinese families. Three n...
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| Veröffentlicht in: | Sci Rep |
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| Hauptverfasser: | , , , , , , |
| Format: | Artigo |
| Sprache: | Inglês |
| Veröffentlicht: |
Nature Publishing Group
2017
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| Schlagworte: | |
| Online Zugang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5314354/ https://ncbi.nlm.nih.gov/pubmed/28211458 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep33713 |
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