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RPGRIP1 gene

Known as: RGI1, CORD13, RETINITIS PIGMENTOSA GTPase REGULATOR-INTERACTING PROTEIN 
National Institutes of Health

Related topics

Related topics

3 relations
Cone-Rod Dystrophy 13LEBER CONGENITAL AMAUROSIS 6 (disorder)RPGRIP1L gene

Papers overview

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2018
2018
Leber Congenital Amaurosis in Asia
Leber congenital amaurosis (LCA) is a heterogeneous infantile retinal dystrophy presenting with severe visual loss, nystagmus… 
2017
2017
Novel RPGRIP1 mutation in Leber congenital amaurosis patients
2017
2017
Characterization of the Role of RPGRIP1 in Microtubule Dynamics and Golgi Organization
The Golgi is a membranous organelle that forms a hub of the secretory pathway in eukaryotic cells. The materials synthesized in… 
2016
2016
A Novel Recessive RPGRIP 1 Mutation Causing Leber Congenital Amaurosis Eine neue rezessive RPGRIP 1 LCA-bestimmende Mutation
Background: Leber congenital amaurosis is an early-onset childhood severe retinal dystrophy, of significant genetic heterogeneity… 
2015
2015
Spata 7 is a retinal ciliopathy gene critical for correct RPGRIP 1 localization and protein traf fi cking in the retina
Leber congenital amaurosis (LCA) and juvenile retinitis pigmentosa (RP) are severe hereditary diseases that causes visual… 
2007
2007
Leber congenital amaurosis caused by an RPGRIP1 mutation shows treatment potencial
2006
2006
with juvenile retinitis pigmentosa genes in patients RPGRIP1 , and GUCY2D, RPE65 AIPL1, CRB1, Identification of mutations in the
2005
2005
Molecular Analysis of Human Mutations on the Interactions Between RPGR, RPGRIP1, and PDE
2005
2005
Molecular, Functional and Mutation Analysis of RPGRIP1 Isoforms