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Novel GPR143 mutations and clinical characteristics in six Chinese families with X-linked ocular albinism
PURPOSE: There are few genetic studies and clinical descriptions of Asian patients with X-linked ocular albinism (OA1). In the present study, the mutation analysis of G protein-coupled receptor 143 gene (GPR143) and clinical characteristics were assessed in Chinese patients with OA1. METHODS: Six fa...
Autores principales: | Fang, Shaohua, Guo, Xiangming, Jia, Xiaoyun, Xiao, Xueshan, Li, Shiqiang, Zhang, Qingjiong |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2576482/ https://www.ncbi.nlm.nih.gov/pubmed/18978956 |
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