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A novel GPR143 duplication mutation in a Chinese family with X-linked congenital nystagmus
PURPOSE: To elucidate the molecular genetic defect of X-linked congenital nystagmus in a Chinese family. METHODS: Genomic DNA was prepared from peripheral blood. We used allele-sharing analysis to identify the possible locus harboring the disease-causing gene. We screened for mutations in the G prot...
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| Main Authors: | , , , , , , |
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| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
Molecular Vision
2009
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2671585/ https://ncbi.nlm.nih.gov/pubmed/19390656 |
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