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A novel mutation of the RPGR gene in a Chinese X-linked retinitis pigmentosa family and possible involvement of X-chromosome inactivation

OBJECTIVES: The objective of this study is to investigate the molecular mechanisms and genotype–phenotype correlations of a Chinese family with X-linked retinitis pigmentosa (XLRP). METHODS: A four-generation family with a total of 41 individuals including 7 affected males was recruited. All subject...

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書目詳細資料
發表在:Eye (Lond)
Main Authors: Wang, Yun, Lu, Lan, Zhang, Daren, Tan, Yueqiu, Li, Danli, He, Fen, Jiao, Xiaodong, Yang, Ming, Hejtmancik, J. Fielding, Liu, Xuyang
格式: Artigo
語言:Inglês
出版: Nature Publishing Group UK 2020
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在線閱讀:https://ncbi.nlm.nih.gov/pmc/articles/PMC8169654/
https://ncbi.nlm.nih.gov/pubmed/32839555
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41433-020-01150-0
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