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- Title
Variations in NPHP5 in patients with nonsyndromic leber congenital amaurosis and Senior-Loken syndrome.
- Authors
Stone, Edwin M; Cideciyan, Artur V; Aleman, Tomas S; Scheetz, Todd E; Sumaroka, Alexander; Ehlinger, Mary A; Schwartz, Sharon B; Fishman, Gerald A; Traboulsi, Elias I; Lam, Byron L; Fulton, Anne B; Mullins, Robert F; Sheffield, Val C; Jacobson, Samuel G
- Abstract
To investigate whether mutations in NPHP5 can cause Leber congenital amaurosis (LCA) without early-onset renal disease.
- Publication
Archives of ophthalmology (Chicago, Ill. : 1960), 2011, Vol 129, Issue 1, p81
- ISSN
1538-3601
- Publication type
Journal Article
- DOI
10.1001/archophthalmol.2010.330