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Identification of a novel GPR143 deletion in a Chinese family with X-linked congenital nystagmus
PURPOSE: To map and identify the genetic mutation underlying X-linked congenital nystagmus in a Chinese family. METHODS: Genomic DNA was prepared from peripheral blood, and linkage analysis was performed using short tandem repeat (STR) polymorphism markers. We used Cyrillic software to manage pedigr...
Autores principales: | , , , , |
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Formato: | Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2008
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2408774/ https://www.ncbi.nlm.nih.gov/pubmed/18523664 |