Condition: Retinitis Pigmentosa 17
rs104894559 in
CA4 gene and
Retinitis Pigmentosa 17
PMID 20450258 2010 Screening for the carbonic anhydrase IV gene mutations in Chinese retinitis pigmentosa patients.
PMID 15563508 2005 Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
PMID 17652713 2007 Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa.