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Mutation screening in genes known to be responsible for Retinitis Pigmentosa in 98 Small Han Chinese Families
Results extended the mutation spectrum of known RP genes in Han Chinese, making a contribution to RP gene diagnosis and the pathogenetic . .
May 16, 2017


Human iPSC derived disease model of MERTK-associated retinitis pigmentosa
Explore a variety of therapeutic compounds/reagents to design either combined cell and gene- based therapies or independent approaches.
Aug 11, 2015


A dominant mutation in hexokinase 1 (HK1) causes retinitis pigmentosa
To identify the cause of retinitis pigmentosa (RP) in UTAD003, a large, six-generation Louisiana family with autosomal dominant RP.
Sep 4, 2014


Leber Congenital Amaurosis
Leber's congenital amaurosis (LCA) is the earliest, most severe form of inherited retinal dystrophies responsible for congenital blindness.
Oct 30, 1999


Mutations in the RPE65 gene in patients with autosomal recessive retinitis pigmentosa or Leber congenital amaurosis
Explore the possible role that defects in RPE65 might play in the etiology of retinal degenerations
May 17, 1998
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