CA4

Disease Category: autosomal dominant

Known Clinical Trials: none

Part of Research Study: none known

Treatment Options: none known

Targeted Strategies to Preserve Eye Health: 

Institution(s) Conducting Research: 

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Genotyping and CA4 gene analysis in a Chinese family with retinitis pigmentosa

To illuminate pathogenic gene and mutation in a Chinese family with autosomal dominant retinitis pigmentosa (adRP). Genetic linkage analysis was performed on the known genetic loci for adRP with a panel of polymorphic markers, and then all exons including exon-intron boundary, 5oUTR and 3oUTR of the candidate gene were sequenced directly. Two-point LOD scores were negative . . . 

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