RPGR gene

Known as: CORDX1, RETINITIS PIGMENTOSA GTPase REGULATOR, RPGR 
 
National Institutes of Health

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2007
Highly Cited
2007
Mutations in the retinitis pigmentosa GTPase regulator (RPGR) gene are the most common single cause of retinitis pigmentosa… (More)
Is this relevant?
Highly Cited
2003
Highly Cited
2003
Retinitis pigmentosa is a photoreceptor degenerative disease leading to blindness in adulthood. Leber congenital amaurosis (LCA… (More)
  • figure 1
  • figure 2
  • figure 4
  • figure 3
  • figure 5
Is this relevant?
Highly Cited
2003
Highly Cited
2003
We determined the mutation spectrum of the RP2 and RPGR genes in patients with X-linked retinitis pigmentosa (XLRP) and searched… (More)
Is this relevant?
2003
2003
PURPOSE To characterize the molecular defects in two x-linked retinitis pigmentosa (RP) families. We hypothesized that different… (More)
Is this relevant?
Highly Cited
2002
Highly Cited
2002
X-linked retinitis pigmentosa (XLRP) is a clinically and genetically heterogeneous degenerative disease of the retina. At least… (More)
  • table 1
  • figure 1
  • table 2
  • table 3
  • figure 2
Is this relevant?
Highly Cited
2002
Highly Cited
2002
X-linked cone dystrophy is a type of hereditary retinal degeneration characterized by a progressive dysfunction of the day vision… (More)
  • figure 1
  • figure 2
  • figure 3
Is this relevant?
Highly Cited
2001
Highly Cited
2001
Retinitis pigmentosa (RP) is a blinding retinal disease in which the photoreceptor cells degenerate. Mutations in the gene for… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2000
Highly Cited
2000
The X-linked RP3 locus codes for retinitis pigmentosa GTPase regulator (RPGR), a protein of unknown function with sequence… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • figure 5
Is this relevant?
Highly Cited
2000
Highly Cited
2000
The gene RPGR was previously identified in the RP3 region of Xp21.1 and shown to be mutated in 10–20% of patients with the… (More)
  • figure 1
  • figure 2
  • figure 3
  • figure 4
  • table 1
Is this relevant?
Highly Cited
1996
Highly Cited
1996
X-linked retinitis pigmentosa (xIRP) is a severe progressive retinal degeneration which affects about 1 in 25,000 of the… (More)
Is this relevant?