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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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| Publicado no: | Eye (Lond) |
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| Main Authors: | , , , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group UK
2020
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| Assuntos: | |
| Acesso em linha: | 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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