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A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus
PURPOSE: The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. METHODS: A common clinical examination and an ophthalmic evaluation were performed on th...
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| Main Authors: | , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Molecular Vision
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3060156/ https://ncbi.nlm.nih.gov/pubmed/21423867 |
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