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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Detalles Bibliográficos
Autores principales: Peng, Yuanyuan, Meng, Yan, Wang, Zheng, Qin, Mei, Li, Xiaoqiao, Dian, Yan, Huang, Shangzhi
Formato: Texto
Lenguaje:English
Publicado: Molecular Vision 2009
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2671585/
https://www.ncbi.nlm.nih.gov/pubmed/19390656

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