×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
AlteredExpression
disease
BEFREE
The results suggest that the expression level of CA IV may be important to maintain retina function in RP .
20450258
2010
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
GeneticVariation
disease
BEFREE
Pathogenesis of retinitis pigmentosa associated with apoptosis-inducing mutations in carbonic anhydrase IV .
19211803
2009
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
GeneticVariation
disease
LHGDN
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa .
17652713
2007
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
GeneticVariation
disease
BEFREE
Identification and characterization of a novel mutation in the carbonic anhydrase IV gene that causes retinitis pigmentosa .
17652713
2007
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
CausalMutation
disease
CLINVAR
Mutant carbonic anhydrase 4 impairs pH regulation and causes retinal photoreceptor degeneration.
15563508
2005
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
GeneticVariation
disease
BEFREE
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa .
15090652
2004
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
Biomarker
disease
GENOMICS_ENGLAND
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa .
15090652
2004
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
GeneticVariation
disease
BEFREE
These experiments suggest a promising approach to treatment of RP17 that might delay the onset or possibly prevent this autosomal dominant form of RP .
15295099
2004
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
CausalMutation
disease
CLINVAR
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa .
15090652
2004
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
GeneticVariation
disease
LHGDN
Apoptosis-inducing signal sequence mutation in carbonic anhydrase IV identified in patients with the RP17 form of retinitis pigmentosa .
15090652
2004
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
GeneticVariation
disease
BEFREE
In order to determine the prevalence of rhodopsin alterations in southern French populations, we examined 52 unrelated patients/families with autosomal dominant RP (adRP =29), RP simplex (6), or unclassified RP (17 ).
10521250
1999
×
Entrez Id:
762
Gene Symbol:
CA4
CA4
0.470
GeneticVariation
disease
BEFREE
Retinitis pigmentosa locus on 17q (RP17 ): fine localization to 17q22 and exclusion of the PDEG and TIMP2 genes.
9385361
1997