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LUPSKI, JAMES
One or more keywords matched the following items that are connected to
LUPSKI, JAMES
Item Type
Name
Academic Article
ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.
Academic Article
Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.
Academic Article
Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1.
Academic Article
Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1.
Concept
Retinitis Pigmentosa
Academic Article
New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11.
Academic Article
New mutations in the RAB28 gene in 2 Spanish families with cone-rod dystrophy.
Academic Article
Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa.
Grant
ABCR, Macular Dystrophies and Degeneration
Search Criteria
Retinitis